Publications by authors named "Michel David"

41 Publications

Three-dimensional virtual and printed models for planning adult cardiovascular surgery.

Acta Cardiol 2020 Dec 7:1-10. Epub 2020 Dec 7.

Department of Medical Imaging, Deutsches Hospital, Buenos Aires, Argentina.

Background: The objective of this study was to explore the usefulness of virtual models and three-dimensional (3D) printing technologies for planning complex non-congenital cardiovascular surgery.

Methods: Between July 2018 and December 2019, adult patients with different cardiovascular structural diseases were included in a clinical protocol to explore the usefulness of Standard Tessellation Language (STL)-based virtual models and 3D printing for prospectively planning surgery. A qualitative descriptive analysis from the surgeon's viewpoint was done based on the characteristics, advantages and usefulness of 3D models for guiding, planning and simulating the surgical procedures.

Results: A total of 14 custom 3D-printed heart and great vessel replicas with their corresponding 3D virtual models were created for preoperative surgical planning. Six of 14 models helped to redefine the surgical approach, 3 were useful to verify device delivery, while the rest did not change the surgical decision. In all open surgery cases, cardiac and vascular anatomy accuracy of virtual and physical 3D replicas was validated by direct visualisation of the organs during surgery. Printing was achieved through an external provider associated with the Hospital, who printed the final prototype in 5-7 days. Printed production cost was between 100 and 500 USD per model.

Conclusions: In the current study, the selected 3D printed models presented different advantages (visual, tactile, and instrumental) over the traditional flat anatomical images when simulating and planning some complex types of surgery. Notwithstanding 3D printing advantages, STL-based virtual models were pre-printing useful tools when instrumentation on a physical replica was not required.
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http://dx.doi.org/10.1080/00015385.2020.1852754DOI Listing
December 2020

Resection of retroperitoneal soft-tissue sarcoma involving the abdominal aorta.

BMJ Case Rep 2020 Nov 30;13(11). Epub 2020 Nov 30.

Vascular Surgery Department, Hospital Britanico de Buenos Aires, Buenos Aires, Argentina.

Complete surgical resection of soft-tissue sarcomas (STSs) frequently requires complex multivisceral resections, which is the most important factor related to overall survival and local recurrence. Major vascular involvement is not rare in patients with primary retroperitoneal STSs. We present a 54-year-old woman with a retroperitoneal STS encasing the infrarenal abdominal aorta. The patient underwent complete oncological resection with vascular reconstruction using a bi-iliac vascular graft. Major blood vessel involvement is not a contraindication for STS surgery with a curative intent.
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http://dx.doi.org/10.1136/bcr-2020-237107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7705541PMC
November 2020

Long-term outcomes of symptomatic and asymptomatic patients undergoing carotid endarterectomy in an average-volume community hospital.

Acta Chir Belg 2020 Jul 25:1-7. Epub 2020 Jul 25.

Department of Surgery, Herzzentrum Deutsches Hospital, Buenos Aires, Argentina.

Background: Long-term benefit of carotid endarectomy has not yet been fully investigated in average volume centers. Thus our purpose is to evaluate long-term results of carotid endarterectomies at a medium-volume hospital.

Methods: A retrospective analysis of carotid artery stenosis operated between 2008 and 2017 in a community hospital was done. Demographic and postoperative outcomes were evaluated in short and long-term by Kaplan-Meier survival analysis.

Results: 167 procedures in 159 patients were included. Average age was 72 years, and 65% were men. Twenty-nine percent of the patients were symptomatic and the rest asymptomatic. Median hospitalization was 3 (IQR 3-4) days and the mean follow-up was 56 months. No hospital mortality was recorded. At 120-month follow-up, freedom of stroke was 97.4%, death 97.3%, restenosis, 98.7% and all combined events 92.9% (log rank  = .042) Combined event-free survival was 84.4% in symptomatic patients, and 96.1% in asymptomatic patients (log rank  = .025).

Conclusions: In a medium-volume hospital combined event-free survival was 84.4% in symptomatic patients and 96.1% in asymptomatic at a 10-year follow-up.
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http://dx.doi.org/10.1080/00015458.2020.1798112DOI Listing
July 2020

[Identification of the predictive factors of new vertebral fractures in a cohort of patients who underwent a vertebroplasty for osteoporotic fracture].

Presse Med 2019 Oct 23;48(10):1175-1177. Epub 2019 Oct 23.

CHU d'Amiens, université de Picardie-Jules-Verne, service de rhumatologie, 80054 Amiens, France.

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http://dx.doi.org/10.1016/j.lpm.2019.09.033DOI Listing
October 2019

Three-dimensional CT angiography of anatomic variations in the pulmonary arterial tree.

Surg Radiol Anat 2018 Jan 30;40(1):45-53. Epub 2017 Aug 30.

Thoracic Surgery Department, Amiens University Hospital, University of Picardy, 80054, Amiens cedex 01, France.

Purpose: Anatomic variations of the pulmonary arterial tree can cause technical difficulties during pulmonary lobectomy in general and video-assisted thoracic surgery (VATS). Using CT angiography and 3D reconstruction, we sought to identify anatomic variations of the pulmonary arterial tree and assess their respective frequencies.

Methods: We retrospectively studied 88 pulmonary arterial trees in 44 patients having undergone VATS lobectomy for lung cancer over an 18-month period in Amiens University Hospital's Department of Thoracic Surgery. Each CT angiography with 3D reconstruction of the pulmonary arterial tree was performed by two experienced operators, according to a standardized procedure.

Results: On the right side, the upper lobe was supplied with blood by a mediastinal artery in 100% of cases and by one or more fissural arteries in 88.6%. The middle lobe was usually supplied by two arteries (54.5%). The upper segment of the right lower lobe was usually supplied by a single artery (90.9%). We identified 11 variations in the vasculature of the basal segments. On the left side, the upper lobe was supplied by four arteries in 50% of cases, three culminal arteries (50%), and a fissural lingular artery (77.3%). The upper segment of the left lower lobe was usually supplied by a single artery (65.9%). We identified 15 anatomic variations in the vasculature of the basal segments. We observed that the origin of the apical artery of the right lower lobe was proximal to the origin of the middle lobe artery in 38.6% of cases. The origin of the apical artery of the left lower lobe artery was proximal to the origin of the lingular fissural artery in 65.9% of cases.

Conclusion: The findings of the present CT angiography/3D reconstruction study agreed with the reference works on the anatomy of the pulmonary arterial tree and defined the frequency of anatomic variations. It is essential to assess the anatomy of the pulmonary arterial tree before VATS lobectomy.
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http://dx.doi.org/10.1007/s00276-017-1914-zDOI Listing
January 2018

Health Service Utilisation, Detection Rates by Family Practitioners, and Management of Patients with Common Mental Disorders in French Family Practice.

Can J Psychiatry 2017 08 20;62(8):521-530. Epub 2017 Jan 20.

1 Inserm, U1061, University of Montpellier, Montpellier, France.

Objective: Provide up-to-date detection rates for common mental disorders (CMD) and examine patient service-use since the Preferred Doctor scheme was introduced to France in 2005, with patients encouraged to register with and consult a family practitioner (FP) of their choice.

Methods: Study of 1133 consecutive patients consulting 38 FPs in the Montpellier region, replicating a study performed before the scheme. Patients in the waiting room completed the self-report Patient Health Questionnaire (PHQ) and Client Service-Receipt Inventory with questions on registration with a Preferred Doctor and doctor-shopping. CMD was defined as reaching PHQ criteria for depression, somatoform, panic or anxiety disorder. For each patient, FPs completed a questionnaire capturing psychiatric caseness.

Results: 81.2% of patients were seeing their Preferred Doctor on the survey-day. Of those with a CMD, 52.6% were detected by the FP. This increased with CMD severity and comorbidity. Detected cases were more likely to be consulting their Preferred Doctor (84.7% versus 79.4% for non-detected cases, p = 0.05) rather than another FP. They declared more visits to psychiatrists (17.2% versus 6.7%, p = 0.002). There was no association with consultation frequency or doctor-shopping, which both declined between the two studies.

Conclusion: The CMD detection rate is relatively high, with no increase compared to our previous study, despite a decline in doctor-shopping. An explanation is the same high proportion of patients visiting their usual FP on the survey-day at both periods, suggesting a limited impact of the scheme on care continuity. FP action taken highlights the importance of improving detection for providing care to patients with CMDs.
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http://dx.doi.org/10.1177/0706743716686918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546665PMC
August 2017

Growth curves for congenital adrenal hyperplasia from a national retrospective cohort.

J Pediatr Endocrinol Metab 2016 Dec;29(12):1379-1388

Background: In congenital adrenal hyperplasia (CAH), adjusting hydrocortisone dose during childhood avoids reduced adult height. However, there are currently no CAH-specific charts to monitor growth during treatment. Our objective was to elaborate growth reference charts and bone maturation data for CAH patients.

Methods: We conducted a retrospective observational cohort study, in 34 French CAH centers. Patients were 496 children born 1970-1991 with genetically proven 21-hydroxylase deficiency. Their growth and bone maturation data were collected until age 18 together with adult height, puberty onset, parental height, and treatment. The mean (SD) heights were modeled from birth to adulthood. The median±1 SD and ±2 SDs model-generated curves were compared with the French references. A linear model for bone maturation and a logistic regression model for the probability of short adult height were built.

Results: Growth charts were built by sex for salt wasting (SW) and simple virilizing (SV) children treated before 1 year of age. In girls and boys, growth was close to that of the general French population up to puberty onset. There was almost no pubertal spurt and the mean adult height was shorter than that of the general population in girls (-1.2 SD, 156.7 cm) and boys (-1.0 SD, 168.8 cm). Advanced bone age at 8 years had a strong impact on the risk of short adult height (OR: 4.5 per year advance).

Conclusions: The 8-year bone age is a strong predictor of adult height. It will help monitoring the growth of CAH-affected children.
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http://dx.doi.org/10.1515/jpem-2016-0156DOI Listing
December 2016

Patient Satisfaction and Efficacy of Full-Facial Rejuvenation Using a Combination of Botulinum Toxin Type A and Hyaluronic Acid Filler.

Dermatol Surg 2015 Dec;41 Suppl 1:S325-32

*Medikas, Somerset, United Kingdom; †Private Practice, Metz, France; ‡Riverbanks Clinic, Bedfordshire, United Kingdom; §Clínica Moisés Amselem, Madrid, Spain; ‖Clínica Dermatológica Internacional Skinlogic, Madrid, Spain; ¶Galderma R&D, Sophia Antipolis, France; #Freelance office, Epinay-Sous-Sénart, France; **AESTHETICS, Bordeaux, France.

Background: Combination treatments using hyaluronic acid (HA) fillers and botulinum toxin Type A (BoNT-A) are common in aesthetic medicine; however, this has been evaluated in only a few clinical studies.

Objective: To evaluate subject satisfaction, efficacy, and safety of BoNT-A (Speywood Unit; s.U) and a range of HA fillers for full-facial aesthetic rejuvenation.

Materials And Methods: A 6-month, multicenter, open-label clinical study, using BoNT-A (s.U) and 5 HA fillers to treat up to 13 facial zones. Subject satisfaction questionnaires were administered 3 weeks and 6 months after the last injection. Global aesthetic improvement and improvement on each treated zone as well as safety were evaluated.

Results: A high level of satisfaction was achieved throughout the study, with 96.5% of subjects at least satisfied with the full-facial aesthetic outcome at 3 weeks, and 92.9% at 6 months. More than 91% considered the treatment outcome to meet or surpass their expectations, and more than 94% would recommend the treatment to others. At Week 3, subject and investigator assessment showed aesthetic improvement for all subjects. The treatment was well tolerated.

Conclusion: The combination of BoNT-A (s.U) and HA fillers results in high patient satisfaction and in an overall improvement of aesthetic outcomes and quality of life.
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http://dx.doi.org/10.1097/DSS.0000000000000548DOI Listing
December 2015

[Living Lab MACVIA. Chronic diseases].

Presse Med 2015 Nov 23;44 Suppl 1:S47-54. Epub 2015 Oct 23.

CHRU de Montpellier, MACVIA-LR, contre les maladies chroniques pour un vieillissement actif en Languedoc-Roussillon, European Innovation Partnership on Active and Healthy Ageing Reference Site, 34295 Montpellier cedex 5, France; Inserm U1018, 94807 Villejuif cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2015.07.009DOI Listing
November 2015

[Living Lab MACVIA. Chronic diseases].

Presse Med 2015 Nov 23;44 Suppl 1:S47-54. Epub 2015 Oct 23.

CHRU de Montpellier, MACVIA-LR, contre les maladies chroniques pour un vieillissement actif en Languedoc-Roussillon, European Innovation Partnership on Active and Healthy Ageing Reference Site, 34295 Montpellier cedex 5, France; Inserm U1018, 94807 Villejuif cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2015.07.009DOI Listing
November 2015

Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.

J Pediatr Urol 2014 Oct 15;10(5):941-7. Epub 2014 Mar 15.

Service d'Urologie Pédiatrique, Hôpital Mère-Enfant, Centre Hospitalo-Universitaire de Lyon, GHE, 59, boulevard Pinel, 69677 Bron Cedex, France. Electronic address:

Objective: To describe the action of prenatal dexamethasone (PreDex) on the anatomy of female congenital adrenal hyperplasia (CAH) genitalia when started at later stages of gestation.

Materials And Methods: Our group follows a large cohort of French CAH patients who underwent PreDex therapy, of whom 258 were recently reported. Four 46,XX patients with a delayed PreDex treatment presented with a virilized genitalia and required surgical reconstruction. This is a retrospective report on genital phenotyping at the time of surgery of these four patients who began PreDex therapy at 8, 12, 20, and 28 weeks of gestation.

Results: Although this series is limited in number, the anatomical description of the length of the genital tubercle, the height of the urethra-vaginal confluence, and the degree of fusion of the genital folds seems to be dependent upon the starting date of PreDex. Most PreDex treatments prescribed up to now have covered the full duration of gestation.

Conclusions: Our findings suggest that PreDex therapy could be limited to the period of the partitioning window. It is hoped that further prospective multicentric clinical studies will obtain ethical approval in order to elucidate the place and protocols of PreDex therapy in the management of CAH.
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http://dx.doi.org/10.1016/j.jpurol.2014.02.003DOI Listing
October 2014

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

J Clin Endocrinol Metab 2014 Apr 28;99(4):1180-8. Epub 2014 Jan 28.

Laboratoire d'Endocrinologie Moléculaire et Maladies Rares (V.T.-G., R.M., Y.M.), Centre de Biologie et de Pathologie Est, Hospices civils de Lyon, 69677 Bron, France; Département de Génétique (J.-M.C), Laboratoire Cerba, 95066 Cergy Pontoise, France; Département d'Endocrinologie, Diabétologie, et Métabolismes Pédiatriques (M.D.), Hôpital Mère-Enfant, HCL, 69677 Bron, France; Unité d'Endocrinologie pédiatrique (C.B.-M.), Centre Hospitalier de Bicêtre, 94275 Le Kremlin-Bicêtre, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Unité de Génétique Clinique (C.B.), Hôpital Robert Debré, AP-HP, 75019 Paris, France; Laboratoire d'Explorations Fonctionnelles (M.H.), Hôpital Trousseau, AP-HP, 75012 Paris, France; Unité d'Endocrinologie et Gynécologie Obstétrique (F.L.), Pôle Femme-Mère-Couple, Hôpital Paule de Viguier, 31059 Toulouse, France; Département de Génétique (N.P.), Hôpital Timone, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille, France; Département de Génétique (S.O.), Hôpital Sud, 35203 Rennes, France; and Département de Génétique (A.G.), Centre Hospitalier UniversitaireAngers, 49033 Angers, France.

Context: Prenatal dexamethasone (DEX) treatment has been proposed since 1984 to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH). DEX is effective in CAH females if initiated before the sixth week of gestation, but its safety in children treated in utero remains controversial regarding cognitive functions.

Objective: To avoid prenatal DEX in males and initiate DEX in due time in CAH females, we proposed in 2002 a protocol for fetal sex determination in the maternal serum (SRY test).

Design And Setting: We conducted a retrospective study of the management of 258 fetuses in the period 2002 through 2011 in pregnancies managed in referent medical centers with an institutional practice.

Patients: A total of 258 fetuses at risk of CAH (134 males and 124 females) were included.

Intervention: DEX was offered after informed consent to pregnant women.

Main Outcome Measure: The sensitivity of an early SRY test was evaluated after data collection.

Results: The SRY test is sensitive from 4 weeks and 5 days of gestation. It avoided prenatal DEX in 68% of males, and this percentage increased over the years. DEX was maintained until prenatal diagnosis in non-CAH females. Virilization was prevented in 12 CAH girls treated at the latest at 6 weeks gestation and minimized in 3 girls treated between 6 and 7 weeks gestation. Maternal tolerance was correct. No fetal malformations were noted in the 154 children treated in utero.

Conclusions: The SRY test is reliable to avoid prenatal DEX in males, but its application must be improved. Prenatal DEX should be maintained to prevent virilization and traumatic surgery in CAH girls after informed consent and information provided to families about the benefit to risk ratio in limiting hyperandrogenism during fetal life. Our large multicentric French cohort has helped to better assess the risks previously reported.
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http://dx.doi.org/10.1210/jc.2013-2895DOI Listing
April 2014

Frequent attendance in family practice and common mental disorders in an open access health care system.

J Psychosom Res 2012 Jun 13;72(6):413-8. Epub 2012 Apr 13.

INSERM, U1061, Montpellier, France.

Unlabelled: Frequent attenders in family practice are known to have higher rates of mental disorder. However little is known about specific psychiatric disorders and whether this behavior extends to specialist services, in an open access fee-for-service health care system.

Methods: 1060 patients from 46 family practices completed the Patient Health Questionnaire and the Client Service Receipt Inventory. During the consultation, family practitioners blind to the questionnaire responses rated the severity of mental health and physical disorders. The 10% of patients with the highest number of 6-month consultations in six age and sex stratified groups were defined as frequent attenders.

Results: After adjustments for sociodemographic variables, physical health and other psychiatric diagnoses, patients with a somatoform disorder were more likely to be frequent attenders, with an odds ratio of 2.3 (95% CI: 1.3-3.8, p=.002).

Conclusion: When adjusting for confounders, among the four psychiatric diagnoses investigated only somatoform disorders remain significantly associated with frequent attendance. Physical health and chronic disease were no longer associated with frequent attendance which does not support the hypothesis that in an open access fee-for-service system, patients will consult for a wider range of health problems. Greater investigation into unexplained somatic symptoms could help reduce the frequency of attendance in both primary and secondary care, as this behaviour appears to be a general health-seeking drive than extends beyond family practice.
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http://dx.doi.org/10.1016/j.jpsychores.2012.02.010DOI Listing
June 2012

[The links between justice and public health: a major issue for psychiatry and the public authorities].

Sante Publique 2011 Nov-Dec;23 Suppl 6:S189-96

Centre hospitalier de Monteran, Saint-Claude.

The level of cooperation between legal and healthcare professionals in psychiatry has increased significantly as a result of the greater emphasis on safety and security and the increasing tendency to place mental disorders in a judicial or legal context. As a result of the many new laws that have been passed since 1998, psychiatrists are increasingly required "to treat criminal recidivism and prevent violent behavior". These issues have been highlighted by the scientific, medical and legal community, though without ever resulting in any action by the public authorities. Based on an examination of the care provided to a prisoner before, during and after incarceration, this study suggests that despite the existing regulatory framework and the abundance of data on the provision of care (including psychiatric care), a comprehensive review of the current system is required. To what extent is care management effective and consistent? Are the stated economic objectives achievable? This paper argues that in a prison context the range of healthcare options needs to be clearly defined and laid out in order to provide mental health patients and mental health professionals with a realistic vision of care provision.
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April 2012

Role of the general practitioner in the care of patients recently discharged from the hospital after a first psychotic episode: influence of length of stay.

Prim Care Companion CNS Disord 2011 ;13(5)

INSERM, U1061, University of Montpellier 1, Montpellier, France.

Objective: It is unclear to what extent general practitioners are involved in the postdischarge care of patients hospitalized for a first psychotic episode and whether this involvement is influenced by length of stay in the hospital. The objectives of this study were to describe the role of the general practitioner in providing postdischarge care to patients with first-episode psychosis in terms of frequency and type of consultation and the extent of collaboration with hospital-based specialist services and to determine whether decreasing length of stay was accompanied by a modification in this role.

Method: Six months after hospital discharge, a postal questionnaire was sent to the general practitioners of patients recruited to the French STEP cohort (Schizophrenie et son Traitement: une Evaluation de la Prize en charge), a prospective study of the clinical and social determinants of care pathways and prognosis for patients hospitalized for a first psychotic episode (DSM-IV criteria) in 5 services of the La Colombière Psychiatric Hospital, Montpellier, France. Length of stay in the hospital was dichotomized according to the median value of 35 days. Data collection took place from February 2008 to March 2009.

Results: Of the 121 STEP patients, 65% (n=79) had a regular general practitioner. The general practitioners had been informed by the hospital of the admission of their patient in only 17.9% (7/39) of cases. Of the general practitioners, 78.3% (47/60) had seen the patient at least once since discharge, with a median number of visits standardized over 6 months of 0.86 (range, 0-8.6). General practitioners were better informed with regard to diagnosis, date of discharge, name of psychiatrist, treatment, and community follow-up at discharge for patients with a short length of stay in the hospital, who were also more likely than those with a long length of stay to be consulting for mental health problems.

Conclusions: Our findings suggest a low level of implication of general practitioners in providing postdischarge care to first-episode psychotic patients, irrespective of their length of hospital stay. Yet, the general practitioner has a role to play in coordinating and providing care for somatic health problems as well as psychiatric symptoms, specifically in the case of early discharge.
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http://dx.doi.org/10.4088/PCC.11m01180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267513PMC
June 2013

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

J Med Genet 2011 Dec 2;48(12):825-30. Epub 2011 Nov 2.

INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.

Background: The early gonad is bipotential and can differentiate into either a testis or an ovary. In XY embryos, the SRY gene triggers testicular differentiation and subsequent male development via its action on a single gene, SOX9. The supporting cell lineage of the bipotential gonad will differentiate as testicular Sertoli cells if SOX9 is expressed and conversely will differentiate as ovarian granulosa cells when SOX9 expression is switched off.

Results: Through copy number variation mapping this study identified duplications upstream of the SOX9 gene in three families with an isolated 46,XX disorder of sex development (DSD) and an overlapping deletion in one family with two probands with an isolated 46,XY DSD. The region of overlap between these genomic alterations, and previously reported deletions and duplications at the SOX9 locus associated with syndromic and isolated cases of 46,XX and 46,XY DSD, reveal a minimal non-coding 78 kb sex determining region located in a gene desert 517-595 kb upstream of the SOX9 promoter.

Conclusions: These data indicate that a non-coding regulatory region critical for gonadal SOX9 expression and subsequent normal sex development is located far upstream of the SOX9 promoter. Its copy number variations are the genetic basis of isolated 46,XX and 46,XY DSDs of variable severity (ranging from mild to complete sex reversal). It is proposed that this region contains a gonad specific SOX9 transcriptional enhancer(s), the gain or loss of which results in genomic imbalance sufficient to activate or inactivate SOX9 gonadal expression in a tissue specific manner, switch sex determination, and result in isolated DSD.
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http://dx.doi.org/10.1136/jmedgenet-2011-100255DOI Listing
December 2011

Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis.

Horm Res Paediatr 2011 10;76(3):178-85. Epub 2011 Sep 10.

Pediatric Department, American Memorial Hospital, Reims, France.

Aims: To describe genetic, clinical, anthropometric and radiological characteristics of 22 children with SHOX gene anomalies and familial short stature suggestive of Léri-Weill dyschondrosteosis.

Methods: Monocentric retrospective observational study.

Results: Six children (27%) presented with deletions located downstream of SHOX (mean height -1.4 ± 0.9 SDS) and 16 (68%) with either deletions encompassing SHOX, intragenic deletions or point mutations of SHOX (mean patient height for the 3 latter types of anomalies: -2.6 ± 0.8 SDS). In our sample, the two most frequently observed dysmorphic signs were clinical and/or radiological Madelung deformity (86%) and high arched palate (77%). Half the girls were born small for gestational age. Sixteen children treated with recombinant growth hormone had an increase in height from -2.7 ± 0.7 to -1.4 ± 0.7 SDS. Four children achieved adult height (-2.0 ± 0.9 SDS) with a gain over baseline height of 1.0 ± 0.5 SDS after a mean treatment duration of 5.8 ± 2.1 years.

Conclusion: Patients shared common clinical, anthropometric and radiological signs but their height deficit varied, depending on the type of the SHOX gene anomaly. Due to the small size of our sample, our findings need to be confirmed in a larger population of patients.
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http://dx.doi.org/10.1159/000329359DOI Listing
February 2012

Atrial and vascular oxidative stress in patients with heart failure.

Cell Physiol Biochem 2011 15;27(5):497-502. Epub 2011 Jun 15.

Laboratoire de Physiologie et Pharmacologie Cardiovasculaires Expérimentales, Facultés de Médecine et de Pharmacie, 7 Bd. Jeanne d’Arc, Dijon Cedex, France.

Heart failure is characterized by a great number of metabolic and histological defects, however, previous studies did not provide strong evidence of a correlation between the antioxidant status of myocardial tissue itself and cardiac function. The goal of our study was to assess, in patients with heart failure consecutive to dilated cardiomyopathy (DCM), alterations in norepinephrine (NE), lipid peroxidation (malonedialdehyde: MDA) and iron levels in different parts of the myocardium and aorta, in relation to functional parameters. Biopsied heart samples were obtained from 12 DCM patients and from 4 brain-dead organ donors (Controls). The left ventricular ejection fraction (LVEF) was reduced to 19.1±2.6% in DCM. For all patients, the distribution of NE in the atria, ventricles and vessels was different, but NE content in control hearts was systematically higher than in cardiomyopathy patients. MDA levels tended to be higher in the different samples from the DCM group in comparison with the values obtained in the C group; the values were significantly decreased (p<0.05) in endocardium and the aortic samples. In the right atrium there was a significant correlation between NE content and LVEF and between MDA and iron concentrations. These findings could give further insights into the relationship between iron metabolism disturbances and the severity of cardiovascular diseases.
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http://dx.doi.org/10.1159/000329951DOI Listing
October 2011

The mental health of doctor-shoppers: experience from a patient-led fee-for-service primary care setting.

J Affect Disord 2011 Jun 14;131(1-3):428-32. Epub 2011 Jan 14.

Inserm U888, Pathologies of the Nervous System, Montpellier, France.

Background: Doctor-shopping may reflect unmet patient needs and places a significant burden on health resources; however little is known about its underlying reasons and how it relates to mental illness and its recognition in an open access fee-for-service setting.

Methods: In 2003-2004, consecutive patients of 46 French general practitioners (GPs), completed in the waiting room the self-report Patient Health Questionnaire and reported on service use in the past six months. During the consultation, GPs rated the severity of any physical and psychiatric disorders.

Results: Of 1079 patients, those rated by the GP as having a common mental disorder were significantly more likely to be doctor-shoppers but only if visiting another GP because of dissatisfaction with previous care (OR=2.3, 95% CI: 1.4-3.7). A similar trend is observed for those identified as having a common mental disorder by the Patient Health Questionnaire. Among patients with a common mental disorder, 'dissatisfied' doctor-shoppers were significantly more likely to be recognised as cases by the GP, adjusting for covariates (OR=6, 95% CI: 2.1-17.2). This was not the case for those doctor-shopping for practical reasons alone.

Conclusion: Doctor-shopping behaviour is associated with higher rates of mental illness and, among cases, an increased likelihood of recognition by the GP, only however for doctor-shoppers dissatisfied with previous care. This suggests a benefit to letting patients choose their GP as is the case in France and change if not satisfied.
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http://dx.doi.org/10.1016/j.jad.2010.12.009DOI Listing
June 2011

The table maneuver: a procedure used with success in four cases of unconscious choking older subjects.

Am J Med 2010 Dec 1;123(12):1150.e7-9. Epub 2010 Oct 1.

Department of Internal Medicine and Geriatrics, University Hospital of Montpellier, and EUROMOV, University Montpellier 1, Montpellier, France.

Background: confronted with an unconscious choking victim, it is recommended to call an ambulance and start mouth-to-mouth and cardiopulmonary resuscitation (CPR). We describe a procedure called the "table maneuver" that was successful in relieving foreign-body airway obstruction in 4 cases of choking in unconscious elderly patients over a 6-year period in the same long-term care facility.

Methods: the patients ranged in age from 70 to 89 years and were cyanosed and unconscious after choking while having a meal at a table. In a first attempt in 1 case, after failure of the Heimlich maneuver in 2 cases, and in combination with CPR in 1 person in cardiac arrest, the choking person was laid down on the table in prone position with the head facing downwards, with the arms hanging over the table, and then given sharp blows between the scapulas with the heel of the hand.

Results: after a few back blows in 3 cases, and in combination with CPR in 1 case, the patients forcefully spit out the foreign body (pieces of beets, Brussels sprouts, a croissant soaked in milk, or pieces of banana) without either early or late complications.

Conclusion: these 4 case reports show that the table maneuver is a potentially life-saving technique that could be applied to patients with severe choking caused by foreign-body airway obstruction who fail to respond to the Heimlich maneuver and other conventional treatments.
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http://dx.doi.org/10.1016/j.amjmed.2010.07.010DOI Listing
December 2010

Gastric radiation enteritis after intra-arterial yttrium-90 microsphere therapy for early stage hepatocellular carcinoma.

Exp Clin Transplant 2009 Sep;7(3):141-4

Department of Surgery, Division of Transplantation, The Methodist Hospital, Houston, Texas 77030, USA.

Objectives: As clinicians who treat hepatocellular carcinoma move yttrium-90 intra-arterial radiotherapy from the palliative setting to the treatment of patients with potentially curable early stage disease, more intense scrutiny of the safety of that procedure is warranted. To demonstrate the potential risks associated with this treatment, in the following case report, we describe a patient with early stage hepatocellular carcinoma who experienced severe toxicity from intra-arterial radiotherapy.

Materials And Methods: Screening studies in a 64-year-old Asian woman with a history of hepatitis C virus infection and cirrhosis identified a 3.5-cm well-differentiated hepatocellular carcinoma with no vascular invasion. After initial evaluation, the patient received treatment with intra-arterial radiotherapy. Four weeks after the conclusion of that therapy, she experienced nausea, vomiting, and weight loss. Upper endoscopy with biopsy identified antral gastritis and embolic microspheres in the submucosal layer of the gastric antrum.

Results: When she was subsequently referred for a liver transplant evaluation, her symptoms included failure to thrive and persistent weight loss. She was initially treated with feeding via a jejunostomy tube and ultimately received a liver transplant. However, 8 months after transplant she required an urgent gastrojejunostomy to bypass a progressive pyloric outlet obstruction. At the time of this writing, 1 year has elapsed since this patient received a liver transplant. No evidence of malignancy has been identified, but she remains partially dependent on tube feedings.

Conclusions: This case highlights the potential risks associated with radioactive microsphere embolization in patients with hepatocellular carcinoma. Given the paucity of data regarding the efficacy of this therapy in treating early stage disease, the use of radioactive microsphere therapy in that patient population should be prospectively studied. To minimize the risk of complications, internationally approved consensus guidelines for the delivery of yttrium-90 should be followed.
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September 2009

Regional heterogeneity of decreased myocardial norepinephrine and increased lipid peroxidation levels in patients with end-stage failing heart secondary to dilated or ischemic cardiomyopathy.

J Heart Lung Transplant 2008 Jul 2;27(7):767-74. Epub 2008 Jun 2.

Facultés de Médecine et de Pharmacie, Laboratoire de Physiologie et Pharmacologie Cardiovasculaires Expérimentales, Centre Hospitalier Universitaire, Dijon, France.

Background: Regional alterations in norepinephrine (NE) and lipid peroxidation in the myocardium of patients with heart failure is not well known. This study was designed to investigate regional myocardial NE levels and lipid peroxidation index and their relationships with the functional parameters in two pathologic conditions: dilated cardiomyopathy (DCM) and ischemic cardiomyopathy (ICM).

Methods: Biopsied heart samples were obtained from 13 DCM and 10 ICM patients (orthotopic cardiac transplantation). Tissue NE was assayed by high-pressure liquid chromatography with electrochemical detection. Tissue lipid peroxidation (malondialdehyde, MDA) was evaluated by the thiobarbituric acid (TBA) reaction.

Results: Non-failing hearts (controls, n = 4) were included in this study for comparison. Left ventricular dysfunction was present at rest with a mean left ventricular ejection fraction (LVEF) of 19.1 +/- 2.6% for DCM patients and 17.4 +/- 2.0% for ICM patients. The amount of NE in control hearts was significantly lower (p < 0.05) than in DCM or ICM hearts. For all patients, there were several differences in distribution of NE among the sub-divisions of the atria and ventricles studied. NE content was significantly higher in the right atria than in the left atria or ventricles. A significant correlation between LVEF and NE concentrations was observed in the left septum of ICM and DCM patients and in the left ventricle of the ICM group. In DCM and ICM patients, some parts of the left ventricle showed higher levels of lipid peroxides compared with controls. MDA levels in patients with DCM varied little from one region to another, whereas in ICM patients there was considerable variation.

Conclusions: This study is the first demonstration of a correlation between the values of pre-operative LVEF and cardiac NE concentrations in specific parts of the myocardium. This effect could not be generalized to the entire heart. The pattern of myocardial MDA distribution did not follow that of the NE distribution.
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http://dx.doi.org/10.1016/j.healun.2008.03.025DOI Listing
July 2008

Role of tuberin in neuronal degeneration.

Neurochem Res 2008 Jun 5;33(6):1113-6. Epub 2008 Mar 5.

Department of Medicine, University of Texas Health Science Center, San Antonio, TX, USA.

One of the tuberous sclerosis complex (TSC) gene products, tuberin is assumed to be the functional component, being involved in a wide variety of cellular processes. Here, we report for the first time that tuberin dysfunction may represent a mechanism for neuronal damage in Alzheimer's disease (AD), Parkinson's disease with dementia (PD/DLB), and a mouse model of PD. Tuberin was hyperphosphorylated at Thr1462 in post-mortem frontal cortex tissue of both AD and PD/DLB patients and in mice treated with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine hydrochloride (MPTP). Both PTEN and Akt phosphoactivation corresponded to the hyperphosphorylation patterns of tuberin suggesting that the PTEN-Akt pathway might be the mechanism of tuberin phosphorylation. Our data provide new information regarding the possible role of tuberin dysfunction in major neurodegenerative disorders, such as AD and PD, whereby inhibition of tuberin function may trigger an onset of neuronal cell death.
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http://dx.doi.org/10.1007/s11064-007-9558-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429521PMC
June 2008

Coarse-grained simulation of amphiphilic self-assembly.

J Chem Phys 2007 Jan;126(3):034506

Materials and Engineering Research Institute, Sheffield Hallam University, Pond Street, Sheffield S1 1WB, United Kingdom.

The authors present a computer simulation study of amphiphilic self-assembly performed using a computationally efficient single-site model based on Gay-Berne [J. Chem. Phys. 74, 3316 (1981)] and Lennard-Jones particles. Molecular dynamics simulations of these systems show that free self-assembly of micellar, bilayer, and inverse micelle arrangements can be readily achieved for a single model parametrization. This self-assembly is predominantly driven by the anisotropy of the amphiphile-solvent interaction, amphiphile-amphiphile dispersive interactions being found to be of secondary importance. While amphiphile concentration is the main determinant of phase stability, molecular parameters such as head group size and interaction strength also have measurable affects on system properties.
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http://dx.doi.org/10.1063/1.2423020DOI Listing
January 2007

Scleroderma lung disease: treatment with cyclophosphamide.

Expert Rev Clin Immunol 2006 Nov;2(6):849-52

Thomas Jefferson University, Division of Rheumatology, 613 Curtis Building, 1015 Walnut Street, Philadelphia, PA 19107, USA.

Evaluation of: Tashkin, Elashoff, Clements PJ et al. Cyclophosphamide versus placebo in scleroderma lung disease. N. Engl. J. Med. 354(25), 2655-2666 (2006). Interstitial lung disease has become one of the leading causes of morbidity and mortality in systemic sclerosis. Currently, there remains a void in proven effective treatment strategies to provide clinical benefit to affected patients. The article under evaluation pioneers the efforts of investigating oral cyclophosphamide in treating scleroderma lung disease by designing a prospective, double-blinded, placebo-controlled study examining the drug's effect on outcome measures of forced vital capacity, patient subjective health assessment questionnaire disability scores, among others. We review the methods, results and overall conclusion of the study, which shows a significant, yet modest, result demonstrating the benefit of oral cyclophosphamide in the context of this disease setting. We conclude that although the study provides an excellent starting point for examining the efficacy of cyclophosphamide in certain forms of scleroderma lung disease, the study's high drop-out rate, choice of forced vital capacity as a primary outcome, side-effect profile of the drug and overall significance of the results make the conclusions difficult to incorporate into clinical practice.
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http://dx.doi.org/10.1586/1744666X.2.6.849DOI Listing
November 2006

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

Mol Cell Endocrinol 2006 Jul 6;254-255:78-83. Epub 2006 Jun 6.

Assistance Publique Hôpitaux de Paris, Robert Debre Hospital Paediatric Endocrinology unit, Robert Debré Hospital, Paris, France.

Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms. The autosomal dominant form due to loss of function mutation in the fibroblast growth factor receptor 1 (FGFR1) accounts for about 10% of cases. We report here three paediatric cases of Kallmann syndrome with unusual phenotype in two unrelated patients with severe ear anomalies (hypoplasia or agenesis of external ear) associated with classical features, such as cleft palate, dental agenesis, syndactylia, micropenis and cryptorchidism. We found de novo mutation in these two patients (Cys178Ser and Arg622Gly, respectively), and one inherited Arg622Gln mutation with intrafamilial variable phenotype. These genotype-phenotype correlations indicate that paediatric phenotypic expression of FGFR1 loss of function mutations is highly variable, the severity of the oro-facial malformations at birth does not predict gonadotropic function at the puberty and that de novo mutations of FGFR1 are relatively frequent.
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http://dx.doi.org/10.1016/j.mce.2006.04.006DOI Listing
July 2006

Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

J Clin Endocrinol Metab 2005 Mar 21;90(3):1323-31. Epub 2004 Dec 21.

Laboratoire de Génétique Moléculaire, Institut de Recherches Cliniques de Montréal, 110 avenue des Pins Ouest, Montréal, Québec, Canada.

Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). In the absence of glucocorticoid replacement, IAD can lead to neonatal death by acute adrenal insufficiency. This clinical entity was not previously well characterized because of the small number of published cases. Since identification of the first TPIT mutations, we have enlarged our series of neonatal IAD patients to 27 patients from 21 unrelated families. We found TPIT mutations in 17 of 27 patients. We identified 10 different TPIT mutations, with one mutation found in five unrelated families. All patients appeared to be homozygous or compound heterozygous for TPIT mutations, and their unaffected parents are heterozygous carriers, confirming a recessive mode of transmission. We compared the clinical and biological phenotype of the 17 IAD patients carrying a TPIT mutation with the 10 IAD patients with normal TPIT-coding sequences. This series of neonatal IAD patients revealed a highly homogeneous clinical presentation, suggesting that this disease may be an underestimated cause of neonatal death. Identification of TPIT gene mutations as the principal molecular cause of neonatal IAD permits prenatal diagnosis for families at risk for the purpose of early glucocorticoid replacement therapy.
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http://dx.doi.org/10.1210/jc.2004-1300DOI Listing
March 2005

Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.

J Clin Endocrinol Metab 2004 Oct;89(10):4829-32

Laboratoire de Biochimie Endocrinienne et Moléculaire, Hôpital Debrousse, and EA3739, Université Claude Bernard, Lyon, France.

Targeted disruption of the orphan nuclear receptor SF1 results in the absence of adrenals and gonads, establishing that this transcription factor is implicated in gonadal determination and adrenal development. Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. We identified a new heterozygous SF1 gene mutation, C16X, in a 46, XY patient showing gonadal dysgenesis with normal adrenal function: low basal levels of AMH and testosterone (T), weak T response to hCG, hypoplastic testes with abundant seminiferous tubules but rare germ cells. This mutation causes premature termination of translation and should abolish all SF1 activity. Therefore haploinsufficiency could explain the deleterious effect of this mutation in our patient suggesting that testis development is more SF1 dose-dependent than adrenal development. Although the same mechanism explains the deleterious effects of SF1 missense mutations, recent studies have demonstrated an additional dominant negative effect. These data suggest that heterozygous mutation impaired adrenal development only if the two mechanisms, gene dosage and dominant negative effects occur.
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http://dx.doi.org/10.1210/jc.2004-0670DOI Listing
October 2004