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 ...

Aug 21st, 2021 - Solitary fibrous tumours (SFTs) are a rare mesenchymal neoplasm with an incidence of 2.8 per 100 000 of which only 1% occur in the female genital tract. Doege-Potter syndrome is a paraneoplastic phenomenon associated with approximately 5%-10% of SFTs and is characterised by non-islet cell hypoglycaemia due to tumour production of low molecular weight insulin-like growth factor-II. We present th...

Aug 14th, 2021 - Despite multiple published reviews, the optimum method of correction and stabilisation of Blount's disease remains controversial. The purpose of this study is to evaluate the clinical and radiological outcomes of acute correction of late-onset tibial vara by percutaneous proximal tibial osteotomy with circular external fixation using two simple rings. Weighing up the pros and cons and to establ...

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...

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)....

Jul 7th, 2021 - The current study analyzed the clinical and genetic characteristics of a family with familial myeloproliferative neoplasms (MPNs). Whole-exome sequencing was conducted, and a germline heterozygous mutation in lysine methyltransferase 2A (KMT2A, also known as MLL1), G3131S (c.9391G > A, p.Gly3131Ser, rs150804738), was identified. Somatic DNA and germline DNA were collected from 8 family members,...

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 (...

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...

Jun 28th, 2021 - The current study assessed the cross-link between mitochondria-related apoptosis and cell cycle machinery systems during ischemia and reperfusion in a rat model of testicular torsion and detorsion. The Wistar male rats were divided into control, 1 h, 2 h, 4 h and 8 h testicular torsion-induced, and 1 h, 2 h, 4 h and 8 h testicular detorsion-induced groups. The Johnson's score was analyzed. The ...

Jun 24th, 2021 - Branchio-Oto (BO) syndrome is one of the common syndromic forms of hearing loss. In this study, we aimed to characterize the clinical and genetic features of BO syndrome in a Chinese deaf family.The proposita in this study was a 29-years-old Chinese female with hearing loss, microtia, anterior concave auricle, and right branchial fistula. The family members agreed to undergo clinical examinatio...

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...

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...

Jun 10th, 2021 - To compare outcomes of percutaneous coronary intervention (PCI) in spontaneous coronary artery dissection (SCAD) patients versus conservative therapy. SCAD is an important cause of myocardial infarction (MI) in young-to-middle-aged women. Percutaneous coronary intervention (PCI) is often pursued, but outcomes compared to conservative therapy are unclear. 403 nonatherosclerotic SCAD patients wer...

Jun 9th, 2021 - Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders, with an incidence of one per 2 million persons. Intracranial hemorrhage (ICH), a major cause of mortality in FXIII deficiency, is reported to be associated with vascular endothelial growth factor (VEGF) and thrombospondin-1 (TSP-1). Therefore, we investigated the association of VEGF and TSP-1 expression and methy...

Jun 5th, 2021 - Terry nails and Lindsay nails are similar forms of proximal apparent leukonychia (PAL). A change in nail bed vascularity is thought to be responsible for PAL. The study was aimed at investigating the frequency of PAL in patients attending a liver disease clinic, the factors associated with its presence, its value for detecting cirrhosis, its prognostic value for mortality, and associated capill...

May 29th, 2021 - Highlights in congenital cardiothoracic surgery: 2020-2021.|2021|Buratto E,Konstantinov IE,|congenital,surgery,surgery,surgery,

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...

May 28th, 2021 - Introduction: Success rate of laparoscopic pyeloplasty for ureteropelvic junction obstruction (UPJO) in children is comparable with open pyeloplasty. Prolonged ileus and injury to adjacent viscera more often occurred in transperitoneal approach; however, longer operation time is noted in retroperitoneal approach. Purpose: This study presented a hybrid retroperitoneoscopic pyeloplasty (HRP), for...

May 26th, 2021 - Spontaneous coronary artery dissection (SCAD) can present with various clinical symptoms, including chest pain, syncope, and sudden cardiac death, particularly in those without atherosclerotic risk factors. In this contemporary analysis, we aimed to identify the causes and predictors of 30-day hospital readmission in SCAD patients. We utilized the latest Nationwide Readmissions Database from 20...

May 24th, 2021 - Inherited liver diseases may present in infancy as cholestatic jaundice progressing to severe hepatic dysfunction. Congenital cytomegalovirus (cCMV) infection may initially involve the liver, yet in otherwise healthy hosts rarely leads to long-term hepatic disease. We report a series of three patients, diagnosed with hereditary liver diseases: progressive familial intrahepatic cholestasis (PFIC...