Read by QxMD icon Read

Congenital abnormality

Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, Maria Teresa Bonati
Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. UMS was suspected in two unrelated probands referred to an academic center with delayed puberty because of the evident ulnar ray and breast defects in their parents. Clinical, biochemical and genetic investigations proved the existence of congenital normosmic IHH (nIHH) associated with pituitary hypoplasia in the two probands who were heterozygous for novel TBX3 pathogenic variants...
December 1, 2018: Endocrine Connections
Jing-Wen Zhang, Yu-Xuan Luo, Yan-Ling Yang, Bing Long, Ying Lu, Xiang-Zhong Zhang
BACKGROUND: X-linked thrombocytopenia (XLT) is a milder form of Wiskott-Aldrich syndrome (WAS), characterized predominantly by thrombocytopenia with small-sized platelets. Mutations in the WAS gene are responsible for the disease. We herein detected a new mutation in the WAS gene responsible for XLT in a 3-generation Chinese pedigree. METHODS: Peripheral blood samples were collected from 7 members in the family. WAS gene was amplified from genomic DNA isolated from leucocytes, and then direct sequencing was performed...
October 31, 2018: Clinical Laboratory
Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth
Anorectal anomalies (ARA) are common congenital anomalies. The etiology of ARA is unclear and its pathogenesis is controversial. Cases with ARA often have other non-ARA-associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with ARA were collected in all live births, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
December 12, 2018: American Journal of Medical Genetics. Part A
Cinthia Aguilera, Elisabeth Gabau, Steve Laurie, Neus Baena, Sophia Derdak, Núria Capdevila, Ariadna Ramirez, Veronica Delgadillo, Maria Jesus García-Catalan, Carme Brun, Miriam Guitart, Anna Ruiz
BACKGROUND: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS-like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS. METHODS: Trio whole-exome sequence was performed on patient and parent's DNA extracted from peripheral blood...
December 11, 2018: Molecular Genetics & Genomic Medicine
Swarnabh Bhattacharya, Laura Serror, Eshkar Nir, Dalbir Dhiraj, Anna Altshuler, Maroun Khreish, Beatrice Tiosano, Peleg Hasson, Lia Panman, Chen Luxenburg, Daniel Aberdam, Ruby Shalom-Feuerstein
Mutations in key transcription factors SOX2 and P63 were linked with developmental defects and post-natal abnormalities such as corneal opacification, neovascularization and blindness. The latter phenotypes suggest that SOX2 and P63 may be involved in corneal epithelial regeneration. While P63 has been shown to be a key regulator of limbal stem cells (LSCs), the expression pattern and function of SOX2 in the adult cornea remained unclear. Here we show that SOX2 regulates P63 to control corneal epithelial stem/progenitor cell function...
December 10, 2018: Stem Cells
J L M Van Gennip, C W Boswell, B Ciruna
The etiopathogenesis of idiopathic scoliosis (IS), a highly prevalent spinal deformity that occurs in the absence of obvious congenital or physiological abnormalities, is poorly understood. Although recent zebrafish genetic studies have linked cilia motility and cerebrospinal fluid (CSF) flow defects with scoliosis progression, underlying mechanisms were not identified. Here, we use next-generation sequencing and conditional genetic methodologies to define the spatial and biological origins of spinal curve formation in ptk7 mutant zebrafish, a faithful IS model...
December 2018: Science Advances
Meltem Özdemir, Alper Dilli
Chudley-McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. The hearing loss may be congenital or early onset. Brain abnormalities are striking, but despite these brain malformations, individuals with CMS do not present significant neurodevelopmental abnormalities. Recently, the cause of CMS has been shown to be the inactivating mutations in G protein signaling modulator 2. We aimed to present a 36-year-old male who has the characteristic clinical and neuroimaging findings of CMS...
2018: Journal of Clinical Imaging Science
Driss Raissi, Alexander Christie, Kimberly Applegate
Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient presentation, typically involving congenital sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and iris. Other developmental abnormalities that may be associated with this syndrome are Hirschsprung's disease and a myriad of cardiovascular congenital defects. We present a case of a young girl with WS who found to have a persistent left superior vena cava (PLSVC) draining into the coronary sinus...
2018: Journal of Clinical Imaging Science
S Simonetti, E Canalís, L Macías, M A Carrasco
Bronchogenic cysts represent congenital malformations deriving from an abnormal development of the primitive foregut during embryogenesis. These lesions are rarely found and they are most frequently localized in the mediastinum, or in lung parenchyma. Intramuscular localization is extremely rare, especially within the diaphragm. We report a case of a 54 year old man showing a large lobulated cystic lesion in the left hemidiaphragm. Complete surgery was performed and histological diagnosis of intradiaphragmatic bronchogenic cyst was made during surgery and confirmed after a total section analysis...
September 2018: Pathologica
Yi-Ling Huang, Kang-Hong Hsu, Enkhzaya Chuluunbaatar, Tzu-Ming Wen, Yi-Ying Li, Ming-Ren Chen, Chung-I Chang, Tung-Yao Chang
OBJECTIVE: To present an accurate prenatal diagnosis of coarctation of the aorta with ventricular septal defect and to illustrate how early diagnosis in prenatal period with proper referral and counseling can optimize management. CASE REPORT: A case with coarctation of the aorta with ventricle septal defect was found to have an abnormal three vessel view at 12 weeks, and with close follow-ups, coarctation of the aorta with ventricle septal defect was diagnosed at 24 weeks...
December 2018: Taiwanese Journal of Obstetrics & Gynecology
Yurii S Borovikov, Olga E Karpicheva, Armen O Simonyan, Stanislava V Avrova, Elena A Rogozovets, Vladimir V Sirenko, Charles S Redwood
Point mutations in genes encoding isoforms of skeletal muscle tropomyosin may cause nemaline myopathy, cap myopathy (Cap), congenital fiber-type disproportion (CFTD), and distal arthrogryposis. The molecular mechanisms of muscle dysfunction in these diseases remain unclear. We studied the effect of the E173A, R90P, E150A, and A155T myopathy-causing substitutions in γ-tropomyosin (Tpm3.12) on the position of tropomyosin in thin filaments, and the conformational state of actin monomers and myosin heads at different stages of the ATPase cycle using polarized fluorescence microscopy...
December 10, 2018: International Journal of Molecular Sciences
Corrado Angelini, Ludovico Lispi, Cecilia Salvoro, Maria Luisa Mostacciuolo, Giovanni Vazza
INTRODUCTION: The slow-channel congenital myasthenic syndrome (SCCMS) is a postsynaptic form of congenital myasthenic syndromes (CMSs), a clinically heterogeneous group of disorders caused by genetic defects leading to an abnormal signal transmission at the endplate. METHODS: We report clinical and molecular data of a multigenerational family in which the presentation of a progressive proximal-distal weakness with ocular involvement led to a number of different clinical diagnoses...
December 12, 2018: Neurological Sciences
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Magda Price, Katherine Selby, Michelle Demos, Mary Connolly, Britt Drögemoller, Casper Shyr, Jill Mwenifumbo, Alison M Elliott, Jessica Lee, Aisha Ghani, Sylvia Stöckler, Ramona Salvarinova, Hilary Vallance, Graham Sinclair, Colin J Ross, Wyeth W Wasserman, Margaret L McKinnon, Gabriella A Horvath, Helly Goez, Clara D van Karnebeek
PURPOSE: The presentation and etiology of cerebral palsy (CP) are heterogeneous. Diagnostic evaluation can be a prolonged and expensive process that might remain inconclusive. This study aimed to determine the diagnostic yield and impact on management of next-generation sequencing (NGS) in 50 individuals with atypical CP (ACP). METHODS: Patient eligibility criteria included impaired motor function with onset at birth or within the first year of life, and one or more of the following: severe intellectual disability, progressive neurological deterioration, other abnormalities on neurological examination, multiorgan disease, congenital anomalies outside of the central nervous system, an abnormal neurotransmitter profile, family history, brain imaging findings not typical for cerebral palsy...
December 13, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Pei Ing Ngam, Syed Shahzad Hussain, Ai Peng Tan
OBJECTIVE: Pial arteriovenous fistula (AVF) is an extremely rare entity due to direct arterial connection with the venous plexus without an intervening capillary network. The objective of this article is to describe a unique case of congenital pial AVF along the interhemispheric falx with complete callosal agenesis and malformation of cortical development within the bilateral anterior cerebral artery territories. We also demonstrated the distinctive feature of temporal stability of the extensive intracranial abnormalities without active intervention...
December 11, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Hui-Fang Zhou, Christopher J O'Conor, Chiraag Gangahar, Louis P Dehner
Background: Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist. Data have shown that omphalocele with co-occurring genetic abnormality has worse prognosis than isolated omphalocele. Chromosomal analysis by a conventional technique such as karyotyping can only detect aneuploidy and large segmental duplication or deletion. Newer techniques such as high-resolution microarray analysis allow for the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to identification of critical region and genes in the pathogenesis of omphalocele...
2018: Case Reports in Pediatrics
Gabriela Caicedo-Herrera, Estephania Candelo, Juan Pinilla, Andrés Vidal, Santiago Cruz, Harry Mauricio Pachajoa
Background: Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities. Case presentation: We describe an infant with developmental delay, neurologic degeneration, and kinky hair. Molecular test revealed a novel heterozygous mutation in exon 21 of the ATP7A gene. The genotype and phenotype of the patient were compared with those of the patients reported in the literature...
2018: Application of Clinical Genetics
Shah Faisal, Hasnain Jan, Muhammad Haroon, Muhammad Taimur Khan, Farman Ullah Jan, Tanveer Iqbal, Ayyaz Khan, Muhammad Shakeel
Toxoplasmosis is a very common and asymptomatic infection caused by Toxoplasma gondii. Pregnant women can develop serious complications if the infection passes to the developing fetus. Primary infection in the pregnant women during the gestation period will result in the development of severe systemic disease with temporary parasitemia and will affect the developing fetus. Several clinical complications can be observed in the congenitally infected children which include mild disease to serious health defects such as mental retardation...
December 2018: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
Hiroki Nakamura, Julia Zimmer, Florian Friedmacher, Prem Puri
INTRODUCTION:  Persistent pulmonary hypertension (PPH) is a major cause of morbidity and mortality in newborns with congenital diaphragmatic hernia (CDH). PPH is characterized by increased vascular resistance and smooth muscle cell (SMC) proliferation, leading to obstructive changes in the pulmonary vasculature. Nitric oxide (NO), generated by endothelial NO synthase (eNOS), is an important regulator of vascular tone and plays a key role in pulmonary vasodilatation. NO synthase interacting protein (NOSIP), which is strongly expressed by pulmonary SMCs, has recently been identified to reduce the endogenous NO production by interacting with eNOS...
December 10, 2018: European Journal of Pediatric Surgery
Maria Claudia Jurcă, Marius Bembea, Oana Alexandra Iuhas, Kinga Kozma, Codruţa Diana Petcheşi, Alexandru Daniel Jurcă, Ariana Szilágyi, Diana Luminiţa Dubău, Cristian Nicolae Sava, Dana Carmen Zaha, Emilia Albiniţa Cuc
The co-occurrence in the same individual of two numerical chromosomal abnormalities (double aneuploidy) is a very rare condition, especially for autosomes. Clinical presentations are variable depending on the predominating aneuploidy. The authors present a rare case of a male infant with multiple congenital anomalies: craniofacial dysmorphism, short neck, agenesis of the corpus callosum, ventricular septal defect, bilateral broad hallux, large first interdigital space of the toes, plantar furrows, prominent calcaneus and right kidney agenesis...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Ilaria Testa, Cristina Salvatori, Giuseppe Di Cara, Arianna Latini, Franco Frati, Stefania Troiani, Nicola Principi, Susanna Esposito
Although Scientific Societies have stated that there are very few indications for the use of soy-based formula (SF) in infant nutrition, their utilization rates have been repeatedly found to be higher than expected. It is likely that a significant role in this regard is played by the belief that the use of SF during infancy can reduce the risk of the development of several diseases later in life. Although no definitive data that can substantiate these claims have been collected, many people perceive soy consumption to confer significant health benefits and might also use soy for infant nutrition...
2018: Frontiers in Nutrition
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"