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Pediatric Health Med Ther 2022 11;13:175-182. Epub 2022 May 11.

Department of Radiography, Dessie Health Science College, Dessie, Ethiopia.

Introduction: Congenital hydrocephalus is one of the commonest congenital anomalies of the central nervous system. It is characterized by extensive accumulation of cerebrospinal fluid within the ventricles of the brain due to an imbalance between synthesis and absorption of cerebrospinal fluid. This study was planned to investigate the incidence and associated risk factors of congenital hydrocephalus. Read More

Eur J Phys Rehabil Med 2022 May 16. Epub 2022 May 16.

IRCCS, MultiMedica, Milan, Italy.

Spinal dysraphism (SD) or Spina bifida (SB) is a congenital deformity that results from embryonic neural tube closure failure during fetal development. This evidence-based position paper represents the official position of the European Union through the UEMS PRM Section. This paper aims to evaluate the role of the physical and rehabilitation medicine (PRM) physician and PRM practice for children and adults with spinal dysraphism. Read More

Arch Gynecol Obstet 2022 May 12. Epub 2022 May 12.

Department of Gynecologic Oncology and Obstetrics, Professor Witold Orlowski Public Teaching Hospital, Warsaw, Poland.

Objectives: To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS).

Methods: A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department.

Results: The median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (- 0. Read More

Cureus 2022 Apr 8;14(4):e23942. Epub 2022 Apr 8.

Internal Medicine, King Abdulaziz Medical City, Riyadh, SAU.

Osmoregulation is a fundamental process of homeostasis that maintains metabolic and biochemical reactions, thermoregulation, and fluid-electrolytes balance. Fluid-electrolytes imbalance leads to various clinical manifestations ranging from mild weakness to severe neurological dysfunction. Adipsic hypernatremia is an exceedingly rare life-threatening condition characterized by defective osmoregulatory mechanisms. Read More

Acta Neurol Belg 2022 May 10. Epub 2022 May 10.

Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin, 300000, China.

Childs Nerv Syst 2022 May 10. Epub 2022 May 10.

Department of Neurosurgery, Hyogo Prefectural Kobe Children's Hospital, 1-6-7 Minatojima-minamimachi, Chuo-ku, Kobe, Hyogo, 650-0047, Japan.

Introduction: Cerebrospinal fluid (CSF) leak and pseudomeningocele are common complications after surgery for spinal dysraphism.

Case Report And Technique: We report a 6-month-old girl with a lumbosacral lipomyelomeningocele and accessory lower limb who developed a refractory cerebrospinal fluid leak and pseudomeningocele after lipomyelomeningocele repair and removal of the accessory limb. The pseudomeningocele was successfully repaired using a reversed dermis flap made from excess skin that covered the meningocele. Read More

Urology 2022 May 3. Epub 2022 May 3.

Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, Utah. Electronic address:

Objectives: To compare trends in the treatment of patients with myelomeningocele receiving intravesical Botulinum (IVB) toxin and enterocystoplasty.

Methods: We identified patients with myelomeningocele in a commercial insurance database from 2008-2017 and stratified them into adult and pediatric samples. Index procedure was identified as either IVB toxin injection or enterocystoplasty. Read More

Dis Model Mech 2022 May 6. Epub 2022 May 6.

Institute for Pediatric Regenerative Medicine of Shriners Hospitals for Children-Northern California, Department of Biochemistry and Molecular Medicine, University of California at Davis, School of Medicine, Sacramento, California 95817, USA.

Neural tube defects (NTDs) are among common and severe birth defects with poorly understood etiology. Mutations in the Wnt coreceptor LRP6 are associated with NTDs in humans. Either gain-of-function (GOF) or loss-of-function (LOF) mutations of Lrp6 can cause NTDs in mice. Read More

Surg Neurol Int 2022 31;13:121. Epub 2022 Mar 31.

Department of Neurosurgery, Maastricht University Medical Center, Maastricht, Netherlands.

Background: The clinical tethered cord syndrome (TCS) can become symptomatic during adulthood, known as adult tethered cord syndrome (ATCS). Distinguishing ATCS from neurogenic claudication attributed to lumbar spinal stenosis may pose a clinical challenge.

Case Description: A 66-year-old male with an underlying complex occult spinal dysraphism (OSD) presented with new onset of lower back and bilateral leg pain plus neurogenic claudication. Read More

Sci Rep 2022 May 3;12(1):7196. Epub 2022 May 3.

The Enteric Nervous System in Gut and Brain Disorders INSERM, TENS, Université de Nantes, Nantes, France.

Our objectives were to better characterize the colorectal function of patients with Spina Bifida (SB). Patients with SB and healthy volunteers (HVs) completed prospectively a standardized questionnaire, clinical evaluation, rectal barostat, colonoscopy with biopsies and faecal collection. The data from 36 adults with SB (age: 38. Read More

Iran J Child Neurol 2022 14;16(2):129-135. Epub 2022 Mar 14.

Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Objectives: Spinal cord tumors are rare in children, mostly presented with unspecific symptoms that might pose a problem due to their possible malignancy and further complications. However, there are limited data on spinal cord lesions in Iran. This study aimed to present a series of 37 cases of primary spinal tumors treated at the same institution and briefly review their pathology, symptoms, and site of occurrence. Read More

Childs Nerv Syst 2022 Apr 26. Epub 2022 Apr 26.

College of Medicine, University of the Philippines Manila, Pedro Gil Street, Ermita, Manila, Philippines.

Background: Spina bifida is a type of a neural tube defect which affects 243.14 per 100,000 babies in Asia. Research articles on spina bifida have increased in the recent years. Read More

Radiol Case Rep 2022 Jun 12;17(6):2092-2096. Epub 2022 Apr 12.

Department of Neurosurgery, Specialties hospital, Ibn Sina University Hospital, Rabat Souissi street-10100, Rabat, Morocco.

Congenital spondyloytic spondylolisthesis (CSS) is characterized as a pars-interarticularis well-corticated cleft with antherolithesis. The presence of spina bifida and vertebral dysplastic changes corroborate the possibility of a congenital etiology. It is a rare condition, usually discovered incidentally, especially after a trauma and should be differentiated from traumatic spondylolysis, which requires aggressive treatments. Read More

Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Mar 25;50(7):1-9. Epub 2021 Mar 25.

2. School of Public Health, Zhejiang University School of Medicine, Hangzhou 310058, China.

: To analyze the incidence, trends and related factors of birth defects in Huai'an from 2008 to 2020. : The surveillance data from maternal and child health system of Huai'an from 2008 to 2020 and Huai'an Statistical Yearbook were used for analysis. Taking the annual change percentage and average annual change percentage (AAPC) as the main outcome indicators, the JoinPoint regression analysis was performed to estimate the changing trend of birth defects from 2008 to 2020. Read More

J Ultrasound Med 2022 Apr 23. Epub 2022 Apr 23.

The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Purpose: This retrospective study was designed to evaluate which lower urinary tract ultrasound parameter(s) could predict the results of invasive urodynamic testing which are the current reference standard in the evaluation of bladder dysfunction in children with spina bifida.

Materials And Methods: Fifty eight children with spina bifida undergoing video urodynamic evaluation and a renal bladder ultrasound as their standard of care were evaluated. Quantitative and qualitative ultrasound parameters were then correlated with the videourodynamic study results which served as the reference standard. Read More

Acta Neurochir (Wien) 2022 Apr 22. Epub 2022 Apr 22.

Department of Neurosurgery, University Hospital of Basel, Basel, Switzerland.

Background: Fatty filum terminale is a form of spinal dysraphism and a third of all patients develop symptoms such as sensory, motor, and urinary impairment. Early surgery at 6 months has the advantage that the bone density is still soft, and the patients are not ambulatory yet, promoting faster healing.

Method: We present our minimal invasive surgical technique for FFT untethering. Read More

Birth Defects Res 2022 Apr 13. Epub 2022 Apr 13.

Developmental Biology and Cancer, UCL GOS Institute of Child Health, London, UK.

Background: Cannabidiol (CBD) is a nonpsychoactive constituent of cannabis widely available as a dietary supplement. Previous reports that it impairs the retinoid, sonic hedgehog, and folate metabolism pathways raise concern that it may impair closure of the embryonic neural tube (NT), producing NT defects including spina bifida and exencephaly.

Methods: We undertook teratogenicity testing of CBD in mouse whole embryo culture. Read More

J Pediatr Urol 2022 Mar 5. Epub 2022 Mar 5.

Division of Urology, Department of Surgery, Duke University School of Medicine, Durham, NC, USA. Electronic address:

Introduction: Spina bifida is the most common permanently disabling birth defect in the United States and requires lifelong, multi-specialty care. The cost of such care has the potential to result in financial toxicity - the 'objective financial burden' and 'subjective financial distress' which can negatively impact clinical outcomes. While this concept has been extensively studied in other areas of medicine, particularly oncology, financial toxicity has not yet been examined in pediatric urology or in individuals with spina bifida and their families/caregivers. Read More

Cureus 2022 Mar 4;14(3):e22832. Epub 2022 Mar 4.

Pediatrics, Vilasrao Deshmukh Government Medical College, Latur, IND.

We report a case of a one-day-old female with congenital facial nerve palsy, bilateral microtia, congenital heart disease, spina bifida, and congenital cholesteatoma. The newborn was brought by the mother with complaints of abnormally looking ear and a facial droop toward the left side, following which a two-dimensional echocardiography was done showing the atrial septal defect and ventricular septal defect. Computed tomography of the temporal bone showed the presence of congenital cholesteatoma in the left ear. Read More

Front Pediatr 2022 21;10:782104. Epub 2022 Mar 21.

Department of Occupational Science and Occupational Therapy, University of Toronto, Toronto, ON, Canada.

Background: With current medical advancements, more adolescents with neurodevelopmental disorders are transitioning from child- to adult-centred health care services. Therefore, there is an increasing demand for transitional services to help navigate this transition. Health care transitions can be further complicated by mental health challenges prevalent among individuals with cerebral palsy (CP), spina bifida (SB), and childhood onset acquired brain injury (ABI). Read More

Childs Nerv Syst 2022 05 4;38(5):873-891. Epub 2022 Apr 4.

Center for Fetal and Placental Research, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 11025, Cincinnati, OH, USA.

Purpose: The use of materials to facilitate dural closure during spina bifida (SB) repair has been a highly studied aspect of the surgical procedure. The overall objective of this review is to present key findings pertaining to the success of the materials used in clinical and pre-clinical studies. Additionally, this review aims to aid fetal surgeons as they prepare for open or fetoscopic prenatal SB repairs. Read More

Nutr Res 2022 Jun 7;102:13-22. Epub 2022 Mar 7.

School of Public Health, Weifang Medical University, Weifang, Shandong 261053, China. Electronic address:

Tea consumption may potentially promote the prevalence of neural tube defects (NTDs) because catechins, the main components of tea polyphenols, can lead to the depletion of bioavailable folate. Many epidemiologic studies have explored the association between tea consumption and NTD risk; however, the findings are inconsistent. This systematic review and meta-analysis investigated the association between tea consumption and NTD. Read More

Cureus 2022 Feb 25;14(2):e22590. Epub 2022 Feb 25.

Neurology, University of Texas Medical Branch, Galveston, USA.

The objective is to describe a rare case of lumbar lipomyelomeningocele presenting as progressive urinary incontinence. Lipomyelomeningocele is a type of closed spinal dysraphism typically presenting as a lipomatous mass contiguous with a neural defect above the gluteal crease. Tethered cord syndrome is defined as symptoms and signs caused by excessive spinal cord tension from an abnormally low conus medullaris, with an abnormally thick filum terminale attached to the lower sacral region. Read More

Ultrasound Obstet Gynecol 2022 Mar 30. Epub 2022 Mar 30.

My FetUZ Fetal Research Center, Department of Development and Regeneration, Biomedical Sciences, KU Leuven, Leuven, Belgium.

Objectives: the MOMS randomized trial has demonstrated that prenatal spina bifida aperta (SBA) repair via open approach is safe and effective for both mother and fetus, yet half of the infants have incomplete reversal of hindbrain herniation and no improvement in neuromotor function. One contributing factor may be the incompleteness of the neurosurgical repair causing persistent in utero leakage of cerebrospinal fluid (CSF) and exposure of the spinal cord to the amniotic fluid until birth. We aim to investigate the neurostructural and neurofunctional efficacy of the watertightness of prenatal SBA repair. Read More

Surg Neurol Int 2021 30;12:628. Epub 2021 Dec 30.

Department of Neurosurgery, Harasanshin Hospital, Fukuoka, Japan.

Background: Terminal myelocystocele (TMC) is an occult spinal dysraphism characterized by cystic dilatation of the terminal spinal cord in the shape of a trumpet (myelocystocele) filled with cerebrospinal fluid (CSF), which herniates into the extraspinal subcutaneous region. The extraspinal CSF-filled portion of the TMC, consisting of the myelocystocele and the surrounding subarachnoid space, may progressively enlarge, leading to neurological deterioration, and early untethering surgery is recommended.

Case Description: We report a case of a patient with TMC associated with OEIS complex consisting of omphalocele (O), exstrophy of the cloaca (E), imperforate anus (I), and spinal deformity (S). Read More

Pediatr Surg Int 2022 Jun 28;38(6):941-948. Epub 2022 Mar 28.

Department of Urology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

Introduction: To assess the long-term effect of bladder augmentation surgery in patients with spina bifida and to identify risk factors for severe bladder dysfunction requiring bladder augmentation.

Methods: A retrospective analysis was performed on 178 patients with spina bifida, 23 of them underwent bladder augmentation. Surgery outcome was evaluated according to urodynamic assessments at three follow-up time points per patient up to 120 months postoperatively. Read More

Nervenarzt 2022 Apr 29;93(4):351-358. Epub 2022 Mar 29.

, Schulstraße 45, Mainz, Deutschland.

The successful medical treatment of patients with complex disabilities requires care by multidisciplinary teams in social paediatric centers (German: SPZ) and medical centers for adults with disabilities (German: MZEB). These complement general outpatient medical care, which would be overwhelmed without this support. The quality of this care is crucial for the participation of patients and the prognosis of the disease. Read More

Eur J Clin Invest 2022 Mar 29:e13784. Epub 2022 Mar 29.

Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre, Rotterdam, the Netherlands.

Background: Congenital cardiac outflow defects (COD) are the largest group of congenital heart defects, with ventricular septal defect (VSD) as the most prevalent phenotype. Increased maternal age, excessive oxidative stress and inflammation are involved in the pathophysiology of COD and enhance telomere length (TL) shortening. We investigated the association between periconception maternal TL and the risk of having a child with COD. Read More

BMC Pediatr 2022 03 26;22(1):158. Epub 2022 Mar 26.

London School of Hygiene and Tropical Medicine, Keppel Street, London, UK.

Background: Early support for children with developmental disabilities is crucial but frequently unavailable in low-resource settings. We conducted a mixed-methods evaluation to assess the feasibility, acceptability, and impact of a programme of early detection and intervention for young children with developmental disabilities in Western Uganda.

Methods: Early child development training for healthcare workers (HCWs) was implemented in three rural districts, and attendance was tracked. Read More

J Man Manip Ther 2022 Mar 27:1-8. Epub 2022 Mar 27.

School of Physiotherapy, University of Otago, Dunedin, New Zealand.

Objectives: To develop a clinical algorithm for classifying acute lumbar spondylolysis from nonspecific low back pain in elementary school-aged patients using the classification and regression tree analysis.

Methods: Medical records of 73 school-aged patients diagnosed with acute lumbar spondylolysis or nonspecific low back pain were retrospectively reviewed. Fifty-eight patients were examined for establishing an algorithm and 15 were employed for testing its performance. Read More