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About 8,180 results

Complete heart block in neonatal lupus: a forgotten cause of fetal bradycardia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596036
BMJ Case Reports; Bin S, Heng R et. al.

Nov 18th, 2021 - The most common cause of congenital heart block (CHB) is neonatal lupus, an acquired autoimmune disease caused by transplacental transfer of maternal antibodies to the fetus. A full-term female neonate was admitted to neonatal intensive care unit for severe bradycardia with stable haemodynamics. The mother, showing no clinical symptoms or any particular history, was transferred to our tertiary ...

Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576979
Journal of Medical Case Reports; Omar AA, Ahmed S et. al.

Nov 10th, 2021 - Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalit...

Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8461853
Journal of Medical Case Reports; Marstrand SD, Tofteng CL et. al.

Sep 25th, 2021 - Primary hyperparathyroidism (PHPT) is a common endocrine disorder and the most frequent benign cause of hypercalcemia. PHPT is characterized by autonomous hypersecretion of parathyroid hormone (PTH), regardless of serum calcium levels. Familial hypocalciuric hypercalcemia (FHH) is a rare, benign syndrome only affecting the regulation of calcium metabolism. FHH is an autosomal-dominant genetic d...

Congenital central hypoventilation syndrome: a life-threatening cause of neonatal apnoea.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454449
BMJ Case Reports; Castro C, Correia C et. al.

Sep 22nd, 2021 - Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems. We describe a rare case of CCHS diagnosed in a term newborn who presented with persistent apnoea in the...

Effect of physical therapy intervention on thickness and ratio of the sternocleidomasto...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8376309
Medicine Song S, Hwang W et. al.

Aug 21st, 2021 - Early diagnosis as well as treatment is important in management of congenital muscular torticollis (CMT). The purpose of this study was to find an effective physical therapy modality to improve the sternocleidomastoid (SCM) muscle thickness, the ratio of the SCM muscle thickness on the affected side to that on the non-affected side (A/N ratio), and head rotation in infant under 3 months of age ...

A Trial of Hyperimmune Globulin to Prevent Congenital Cytomegalovirus Infection.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363945
The New England Journal of Medicine; Hughes BL, Clifton RG et. al.

Jul 29th, 2021 - Primary cytomegalovirus (CMV) infection during pregnancy carries a risk of congenital infection and possible severe sequelae. There is no established intervention for preventing congenital CMV infection. In this multicenter, double-blind trial, pregnant women with primary CMV infection diagnosed before 24 weeks' gestation were randomly assigned to receive a monthly infusion of CMV hyperimmune g...

Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.
https://doi.org/10.3122/jabfm.2021.04.200374
Journal of the American Board of Family Medicine : JABFM; Atwell K, Michael W et. al.

Jul 28th, 2021 - Hypermobility spectrum disorders (HSDs) encompass an array of connective tissue disorders characterized by joint instability and chronic pain. Fatigue and other systemic symptoms that affect daily functioning may occur, as well. Accurate data on incidence and prevalence of HSDs is hampered by lack of awareness of these conditions and the wide heterogeneity of their clinical presentation. Identi...

Bronchopulmonary dysplasia in extremely premature infant with congenital lobar emphysem...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256543
BMC Pediatrics; Lin B, Li H et. al.

Jul 7th, 2021 - Congenital lobar emphysema (CLE) is a congenital pulmonary cystic disease, characterized by overinflation of the pulmonary lobe and compression of the surrounding areas. Most patients with symptoms need an urgent surgical intervention. Caution and alertness for CLE is required in cases of local emphysema on chest X-ray images of extremely premature infants with bronchopulmonary dysplasia (BPD)....

Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia typ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8246282
BMJ Case Reports; Kinkar JS, Jameel PZ et. al.

Jul 2nd, 2021 - Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the SETX gene have been implicated in ATX-SETX. We report the case of a 21-year-old woman presenting with ataxia, oculomotor apraxia and dystonia. She had elevated serum α-fetoprotein (...

Prospective multicenter evaluation of real time PCR Kit prototype for early diagnosis o...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243352
EBioMedicine Benatar AF, Danesi E et. al.

Jun 30th, 2021 - Current algorithm for Congenital Chagas Disease (cCD) diagnosis is unsatisfactory due to low sensitivity of the parasitological methods. Moreover, loss to follow-up precludes final serodiagnosis after nine months of life in many cases. A duplex TaqMan qPCR kit for Trypanosoma cruzi DNA amplification was prospectively evaluated in umbilical cord (UCB) and peripheral venous blood (PVB) of infants...

Cranial US in Infants Exposed to Zika Virus: The NATZIG Cohort.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8409108
Radiology Reis Teixeira S, Elias J et. al.

Jun 30th, 2021 - Background Studies addressing neuroimaging findings as primary outcomes of congenital Zika virus infection are variable regarding inclusion criteria and confirmatory laboratory testing. Purpose To investigate cranial US signs of prenatal Zika virus exposure and to describe frequencies of cranial US findings in infants exposed to Zika virus compared to those in control infants. Materials and Met...

Congenital Lobar Emphysema: Perioperative Evaluation and Management.
https://doi.org/10.1532/hsf.3823
The Heart Surgery Forum; Elsawy Abd Elaziz M, Gaber Elsayed M et. al.

Jun 27th, 2021 - Congenital lobar emphysema (CLE) is a lung malformation characterized by overdistension and air trapping in the affected lobe. It is one of the causes of neonatal and infantile respiratory distress. This study aimed to evaluate our experience regarding perioperative and surgical management in children with CLE. A retrospective observational study was done for all CLE patients who underwent surg...

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of is...
https://doi.org/10.1016/j.ajog.2021.06.079
American Journal of Obstetrics and Gynecology; , Prabhu M et. al.

Jun 26th, 2021 - Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the last 2 decades, the relative importance of soft markers has shifted. The purpose of this document is to discuss the recommended evaluation and management...

Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 ped...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238359
Medicine Ji Y, Kang C et. al.

Jun 24th, 2021 - Autosomal dominant hypocalcaemia type 1 (ADH1) is a genetic disease characterized by benign hypocalcemia, inappropriately low parathyroid hormone levels and mostly hypercalciuria. It is caused by the activating mutations of the calcium-sensing receptor gene (CASR), which produces a left-shift in the set point for extracellular calcium. A 50-year-old man presenting with muscle spasms was admitte...

SMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinom...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8218883
The American Journal of Case Reports; Sakurai Y, Kikuchi S et. al.

Jun 19th, 2021 - BACKGROUND Juvenile polyposis syndrome is an uncommon, autosomal-dominant hereditary disease that is distinguished by multiple polyps in the stomach or intestinal tract. It is associated with a high risk of malignancy. Pathogenic variants in SMAD4 or BMPR1A account for 40% of all cases. CASE REPORT A 49-year-old woman underwent esophagogastroduodenoscopy because of exacerbation of anemia. She h...

Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8224898
PLoS Neglected Tropical Diseases; Borda V, da Silva Francisco Junior R et. al.

Jun 15th, 2021 - Congenital Zika Syndrome (CZS) is a critical illness with a wide range of severity caused by Zika virus (ZIKV) infection during pregnancy. Life-threatening neurodevelopmental dysfunctions are among the most common phenotypes observed in affected newborns. Risk factors that contribute to susceptibility and response to ZIKV infection may be related to the virus itself, the environment, and matern...

Immunological abnormalities in patients with early-onset ataxia with ocular motor aprax...
https://doi.org/10.1016/j.clim.2021.108776
Clinical Immunology (Orlando, Fla.); Kato T, Tamura Y et. al.

Jun 13th, 2021 - Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which is involved in DNA single-strand break repair (SSBR). The neurological abnormalities associated with EAOH are similar to those observed in patients with ataxia-telangiectasia. However, the immunological abnormalities in patien...

Hereditary factor V deficiency from heterozygous mutations with a novel variant p.Pro79...
https://doi.org/10.1097/MBC.0000000000001056
Blood Coagulation & Fibrinolysis : an International Journ... Deng Y, Zhu J et. al.

Jun 9th, 2021 - To explore the causative mutation for autosomal recessive inheritance factor V (FV) deficiency in a Chinese family. Relative coagulation indexes and the FV antigen were tested by the one-stage clotting method and ELISA, respectively. At the same time, the calibrated automated thrombogram (CAT) was used to analyze the mutant protein function. All 25 exons, flanking sequences, 5' and 3' untransla...

A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455264
Journal of the American Society of Nephrology : JASN; Dai L, Li J et. al.

May 30th, 2021 - Bilateral renal agenesis (BRA) is a lethal con genital anomaly caused by the failure of normal development of both kidneys early in embryonic development. Oligohydramnios on fetal ultrasonography reveals BRA. Although the exact causes are not clear, BRA is associated with mutations in many renal development genes. However, molecular diagnostics do not pick up many clinical patients. Nephronecti...

Congenital pseudarthrosis of the forearm as a single manifestation of neurofibromatosis...
https://doi.org/10.1016/j.clinimag.2021.04.032
Clinical Imaging; Elfatairy KK, Ehrlich L et. al.

May 29th, 2021 - Congenital pseudoarthrosis of the forearm is an extremely rare condition. It is most commonly associated with neurofibromatosis type I (NF1). Patients with NF1-associated pseudoarthrosis have complex medical management and often require surgical intervention due to higher failure rates of union. In this case report, we present a unique case of a newborn baby with congenital pseudoarthrosis of b...