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Anaesth Rep 2022 Jan-Jun;10(1):e12172. Epub 2022 Jun 17.

Department of Paediatric Surgery Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India.

A nine-year-old girl diagnosed with ROHHAD-NET (rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysfunction and neuroendocrine tumour) syndrome was scheduled for excision of a large paravertebral ganglioneuroma under general anaesthesia. Her comorbidities included hypothyroidism, diabetes insipidus and autonomic dysfunction. Intra- and postoperative complications included intra-operative hypotension, long surgical time and prolonged postoperative ventilation. Read More

Genes (Basel) 2022 May 31;13(6). Epub 2022 May 31.

Department of Spanish, Linguistics, and Theory of Literature (Linguistics), Faculty of Philology, University of Seville, 41004 Seville, Spain.

Modern humans exhibit phenotypic traits and molecular events shared with other domesticates that are thought to be by-products of selection for reduced aggression. This is the human self-domestication hypothesis. As one of the first types of responses to a novel environment, epigenetic changes may have also facilitated early self-domestication in humans. Read More

Neuropathol Appl Neurobiol 2022 Jun 21:e12830. Epub 2022 Jun 21.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Pediatric Oncology and Hematology, Berlin, Germany.

FASEB J 2022 May;36 Suppl 1

Laboratory of Vascular and Matrix Genetics, National Heart, Lung, and Blood Institute, Bethesda, MD.

BAZ1B is one of several genes deleted in Williams-Beuren Syndrome (WBS), a complex, multisystem genetic condition that occurs in ~1 in 8000 live births. Also known as Williams Syndrome Transcription Factor (WSTF), BAZ1B is thought to be essential for neural crest migration. To evaluate the impact of Baz1b loss of function, we evaluated the "knockout first" allele of Baz1b . Read More

J Am Coll Emerg Physicians Open 2022 Jun 9;3(3):e12742. Epub 2022 Jun 9.

Division of Research Kaiser Permanente Northern California Oakland California USA.

Background: Admission rates for emergency department (ED) patients with acute heart failure (AHF) remain elevated. Use of a risk stratification tool could improve disposition decision making by identifying low-risk patients who may be safe for outpatient management.

Methods: We performed a secondary analysis of a retrospective, multi-center cohort of 26,189 ED patients treated for AHF from January 1, 2017 to December 31, 2018. Read More

J Inflamm Res 2022 9;15:3387-3394. Epub 2022 Jun 9.

Multidisciplinary Integrated Center of Dermatological Interface Research MIC-DIR (Centrul Integrat Multidisciplinar de Cercetare de Interfata Dermatologica - CIM-CID), 'Dunărea de Jos' University, Galați, Romania.

Introduction: CREST syndrome is a clinical entity associated with systemic sclerosis, which meets at least three of the five clinical features: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. Three of these clinical features (Raynaud's phenomenon, sclerodactyly and esophageal dysmotility) are often present in classical subsets of SSc: limited and diffuse, and their presence in association does not define CREST syndrome. Calcinosis seems to be less common in SSc and its association with other clinical features is characteristic of CREST syndrome. Read More

Dev Biol 2022 Jun 11;489:62-75. Epub 2022 Jun 11.

Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, 2300 I (eye) Street, NW, Washington, DC, 20037, USA. Electronic address:

Mcrs1 is a multifunctional protein that is critical for many cellular processes in a wide range of cell types. Previously, we showed that Mcrs1 binds to the Six1 transcription factor and reduces the ability of the Six1-Eya1 complex to upregulate transcription, and that Mcrs1 loss-of-function leads to the expansion of several neural plate genes, reduction of neural border and pre-placodal ectoderm (PPR) genes, and pleiotropic effects on various neural crest (NC) genes. Because the affected embryonic structures give rise to several of the cranial tissues affected in Branchio-otic/Branchio-oto-renal (BOR) syndrome, herein we tested whether these gene expression changes subsequently alter the development of the proximate precursors of BOR affected structures - the otic vesicles (OV) and branchial arches (BA). Read More

Stem Cell Res 2022 Jul 7;62:102831. Epub 2022 Jun 7.

College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, National Clinical Research Center for Otolaryngologic Diseases, Key Lab of Hearing Impairment Science of Ministry of Education, Key Lab of Hearing Impairment Prevention and Treatment of Beijing, China. Electronic address:

Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells. The role of SINE-VNTR-Alu (SVA) retrotransposon insertions in disorders has only been minimally explored and there have been no reports of WS cases related to SVA retrotransposons. Here, we report the successful establishment and characterization of an iPSC line from a patient diagnosed with Waardenburg syndrome carrying an insertion of SVA in intron 2 of SOX10. Read More

Clin Anat 2022 Jun 2. Epub 2022 Jun 2.

Division in Anatomy and Developmental Biology, Department of Oral Biology, Human Identification Research Institute, BK21 FOUR Project, Yonsei University College of Dentistry, Seoul, South Korea.

Postural habits and repetitive motion contribute toward the progress of myofascial pain by affecting overload on specific muscles, the quadratus lumborum (QL) muscle being the most frequently involved. The therapy of myofascial pain syndrome includes the release of myofascial pain syndrome using injective agents such as botulinum neurotoxin, lidocaine, steroids, and normal saline. However, an optimal injection point has not been established for the QL muscle. Read More

ARP Rheumatol 2022 Jan-Mar;1(1):21-29

Serviço de Reumatologia, Hospital Garcia de Orta; Unidade de Investigação em Reumatologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa.

Background: Systemic sclerosis (SSc) is a rare connective tissue disorder with heterogeneous manifestations and outcomes. Besides differences in disease characteristics among distinct ethnic groups and geographical regions, several questions regarding the impact of the disease and the effectiveness of treatments remain unanswered. To address these questions, the Rheumatic Diseases Portuguese Register (Reuma. Read More

J Neuroimmunol 2022 Jul 18;368:577895. Epub 2022 May 18.

Department of Laboratory Medicine and Pathology, Mayo Clinic Foundation, Rochester, MN, USA. Electronic address:

Background: LRP4 is a post-synaptic membrane protein that promotes acetylcholine (AChR) clustering on the crest of post-synaptic neuromuscular folds. Autoantibodies against LRP4 are suggested to account for myasthenia gravis (MG) patients negative for antibodies to AChR.

Objectives: To report a clinical experience with service-line LRP4-IgG cell-based testing in electrodiagnostically confirmed MG patients and controls. Read More

Dis Model Mech 2022 Jun 23;15(6). Epub 2022 Jun 23.

Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC H4A 3J1, Canada.

Heterozygous mutations in SNRPB, an essential core component of the five small ribonucleoprotein particles of the spliceosome, are responsible for cerebrocostomandibular syndrome (CCMS). We show that Snrpb heterozygous mouse embryos arrest shortly after implantation. Additionally, heterozygous deletion of Snrpb in the developing brain and neural crest cells models craniofacial malformations found in CCMS, and results in death shortly after birth. Read More

Dev Dyn 2022 May 18. Epub 2022 May 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Background: Major cell-to-cell signaling pathways, such as the fibroblast growth factors and their four receptors (FGF/FGFR), are conserved across a variety of animal forms. FGF/FGFRs are necessary to produce several "vertebrate-specific" structures, including the vertebrate head. Here, we examine the effects of the FGFR2 S252W mutation associated with Apert syndrome on patterns of cranial integration. Read More

Front Mol Neurosci 2022 29;15:871557. Epub 2022 Apr 29.

Stem Cells and Regenerative Medicine, Birth Defects Research Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

[This corrects the article DOI: 10.3389/fnmol.2021. Read More

J Clin Med 2022 Apr 24;11(9). Epub 2022 Apr 24.

Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan.

Congenital heart diseases (CHD) result from abnormal development of the cardiovascular system and usually involve defects in specific steps or structural components of the developing heart and vessels. The determination of left-right patterning of our body proceeds by the steps involving the leftward "nodal flow" by motile cilia in the node and molecules that are expressed only on the left side of the embryo, eventually activating the molecular pathway for the left-side specific morphogenesis. Disruption of any of these steps may result in left-right patterning defects or heterotaxy syndrome. Read More

Sci Adv 2022 May 13;8(19):eabm9844. Epub 2022 May 13.

Department of Paediatrics and the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

The thymic stroma is composed of epithelial and nonepithelial cells providing separate microenvironments controlling homing, differentiation, and selection of hematopoietic precursor cells to functional T cells. Here, we explore at single-cell resolution the complex composition and dynamic changes of the nonepithelial stromal compartment across different developmental stages in the human and mouse thymus, and in an experimental model of the DiGeorge syndrome, the most common form of human thymic hypoplasia. The detected gene expression signatures identify previously unknown stromal subtypes and relate their individual molecular profiles to separate differentiation trajectories and functions, revealing an unprecedented heterogeneity of different cell types that emerge at discrete developmental stages and vary in their expression of key regulatory signaling circuits and extracellular matrix components. Read More

J Eur Acad Dermatol Venereol 2022 May 11. Epub 2022 May 11.

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Background: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner.

Objectives: To describe the genotypic and clinical spectrum of biallelic KITLG-variants.

Methods: We used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports. Read More

Endoscopy 2022 May 6. Epub 2022 May 6.

Department of Radiology and Hepatogastroenterology, Edouard Herriot Hospital, Lyon, France.

J Gen Fam Med 2022 May 13;23(3):183-184. Epub 2022 Feb 13.

Department of Medical Education Studies International Research Center for Medical Education Graduate School of Medicine The University of Tokyo Tokyo Japan.

An 81-year-old woman complained of low back pain (LBP) on her regular check-up. Physical examination revealed tenderness at the middle point of the posterior iliac crest and burning dysesthesias around the tenderness point, without any other neurological findings. An injection of local anesthetics diminished the pain. Read More

Curr Treat Options Oncol 2022 Jul 1;23(7):1001-1013. Epub 2022 May 1.

Medical Oncology Department, Hospital Universitario Ramón y Cajal, 28034, Madrid, Spain.

Opinion Statement: Neuroendocrine tumors (NET) represent a complex and heterogeneous group of malignancies arising from the diffuse endocrine cells and other cells derived from the neural crest. Advanced disease is observed at diagnosis in more than one-third of patients. Somatostatin analogs (SSA) are the cornerstone in advanced well-differentiated NET treatment. Read More

J Pediatr Endocrinol Metab 2022 Apr 26. Epub 2022 Apr 26.

NIHR Biomedical Research Centre (Nutrition Theme), University of Bristol, Bristol, UK.

Objectives: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neural-crest tumour (ROHHAD(NET)) is a rare syndrome presenting in early childhood associated with high morbidity and mortality. There is no specific diagnostic biomarker and diagnosis is based on clinical features. An autoimmune origin has been postulated. Read More

J Spine Surg 2022 Mar;8(1):62-69

Department of Pathology, University of Toledo Medical Center, Toledo, Ohio, USA.

Background: Spondylodiscitis secondary to () is a rare primary infection of the spine, with a few case reports highlighted. Treatment of this infection is not well established but here we discuss a case where a patient recovered well following early aggressive surgical intervention and antibiotic treatment.

Case Description: A 32-year-old male presented with a 3-month history of worsening low back pain, Horner's syndrome, dysphagia, lower extremity weakness, and a 5-day history of bowel and bladder incontinence. Read More

Pain Ther 2022 Jun 17;11(2):655-665. Epub 2022 Apr 17.

University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

Objectives/introduction: Superior cluneal neuralgia (SCN) is a distinct cause of lower back and/or leg pain related to pathology of the superior cluneal nerve (SCn). SCN has been termed pseudo-sciatica and is an overlooked differential diagnosis when patients are otherwise presenting with low back and/or radicular pain. Radiofrequency ablation (RFA) is commonly used for denervation of the medial branches of the dorsal root for facet joint syndrome for sacroiliac joint; however, RFA has not been described to ablate the SCn for SCN. Read More

Plast Reconstr Surg Glob Open 2022 Apr 8;10(4):e4241. Epub 2022 Apr 8.

College of Medicine, King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh, Saudi Arabia.

The literature does not offer any review of the pathogenesis of the clinical features of syndromes with Pierre Robin sequence (PRS). The senior author (MMA) proposed a hypothesis that SOX9 and its interactions may play a key role in this pathogenesis. The current review aims to test this hypothesis. Read More

J Diabetes Investig 2022 Apr 7. Epub 2022 Apr 7.

Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.

Aims/introduction: In older patients, the management of diabetic macular edema (DME) can be complicated by comorbidities, geriatric syndrome, and socioeconomic status. This study aims to evaluate the effects of aging on the management of DME.

Materials And Methods: This is a real-world clinical study including 1,552 patients with treatment-naïve center-involved DME. Read More

J Multidiscip Healthc 2022 8;15:455-469. Epub 2022 Mar 8.

Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, USA.

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B () gene. Although most patients are diagnosed in the newborn period, an increasing number of patients are presenting later in childhood, adolescence, and adulthood. Despite hypoxemia and hypercapnia, patients do not manifest clinical features of respiratory distress during sleep and wakefulness. Read More

J Clin Med 2022 Mar 14;11(6). Epub 2022 Mar 14.

Department of Hematology, Hospital Universitario de León, Altos de Nava s/n, E-24071 León, Spain.

Myelodysplastic syndrome (MDS) is a group of clonal disorders that arise in pluripotent bone marrow stem cells and present with characteristic phenotypical features (both morphological and flow cytometrical), as well as genotypical abnormalities [... Read More

Am J Ophthalmol Case Rep 2022 Jun 10;26:101486. Epub 2022 Mar 10.

Edith Wolfson Medical Center, 62 Halohamim st., Holon, Israel.

Purpose: To present the first report of a XEN45 gel stent implantation in a female with Axenfeld-Rieger syndrome (ARS), a rare congenital anomaly caused by abnormal neural crest migration during early embryogenesis. This shows promise as new minimally invasive therapeutic option in the treatment of secondary glaucoma in ARS.

Observations: A 31-year-old female with known sporadic ARS was evaluated and treated at the Edith Wolfson Medical Center in Holon, Israel. Read More

Dis Model Mech 2022 04 29;15(4). Epub 2022 Apr 29.

Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked to multiple genetic variants in the coding sequence of phospholipase C β4 (PLCB4). PLCB4 is a direct signaling effector of the endothelin receptor type A (EDNRA)-Gq/11 pathway, which establishes the identity of neural crest cells (NCCs) that form lower jaw and middle ear structures. However, the functional consequences of PLCB4 variants on EDNRA signaling is not known. Read More

Am J Emerg Med 2022 Jun 26;56:391.e5-391.e7. Epub 2022 Feb 26.

Lehigh Valley Health Network, Department of Emergency and Hospital Medicine/USF, Morsani College of Medicine, Cedar Crest Boulevard & I-78, Allentown, PA 18103, USA.

Hypothermia is a common diagnosis in the Emergency Department. It can cause a multitude of symptoms and complications if not treated promptly. The following case report discusses Brugada pattern on an electrocardiogram in a patient with hypothermia and diabetic ketoacidosis. Read More