Search results for " congenital"
showing 9 items of 179 documents
Does Oxygen Content Play a Role in Spontaneous Closure of Perimembranous Ventricular Septal Defects?
2021
(1) Background: the impact of a series of laboratory parameters (haemoglobin, haematocrit, foetal haemoglobin, peripheral oxygen saturation, iron, transferrin, ferritin, and albumin) on perimembranous ventricular septal defects spontaneous healing was tested. (2) Methods: one hundred and seven patients were enrolled in the study (57% males; mean age 2.1 ± 0.4 years) and were subsequently subdivided into two groups: self-healing (n = 36) and in need of intervention (n = 71). Self-healing subjects were defined on the basis of an absence of residual shunts at colorDoppler across the previous defect. (3) Results: no statistically significant differences were reported in the size of perimembrano…
Investigation and management of Toxoplasma gondii infection in pregnancy and infancy: a prospective study.
2011
Aim:Toxoplasma gondii infection during pregnancy poses a serious risk to the fetus, therefore timely and accurate diagnosis is essential. The aim of this study was to estimate the frequency of congenital infection via evaluating mother's immunological status and the possibility to improving the diagnostic and therapeutic approaches.Methods:Eighty five mothers with Toxoplasma seroconversion and their offspring were enrolled (among them, 2 spontaneous abortions were documented in the first trimester). Prenatal PCR diagnosis was carried out on 50 patients (60%), with 7 positive cases (14%). Morphological ultrasound scanning revealed anomalies in one fetus. Long-term follow-up included general …
Pathogenesis and treatment of hirsutism in late-onset congenital adrenal hyperplasia
1995
Late-onset or nonclassic hyperandrogenic congenital adrenal hyperplasia (CAH) is an attenuated deficiency of 21-hydroxylase, 3β-ol-hydroxysteroid dehydrogenase or 11β-hydroxylase which presents during childhood or adolescence and leads to an increased secretion of adrenal androgens. Many reviews of the genetic or hormonal characteristics of these syndromes have been published, but relatively little attention has been paid to the pathogenesis and treatment of hirsutism which, in most young women, is the main complaint. In fact, it is generally assumed that the hirsutism is strictly related to the increased secretion of adrenal androgens and that glucocorticoids are the treatment of choice. H…
Poland’s Syndrome
2020
Poland’s syndrome is a sporadic, congenital thoracic deformity, mostly unilateral, with a wide spectrum of presentation. The thoracic malformations are distinguished on the basis of the anatomical site in which an embryological development alteration has occurred after the fourth week of gestation (Table 3.1) [1]. Poland’s syndrome is a rare congenital and complex anomaly of the development of thoracic muscles, characterized by hypoplasia of the breast and nipple, scarcity of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, lack of the pectoralis minor muscle, aplasia or deformity of the costal cartilages or ribs II to IV or III to V, alopecia of the …
Multiple Congenital Colonic Stenosis: A Rare Gastrointestinal Malformation
2016
Congenital colonic stenosis is a rare pediatric condition. Since 1968, only 16 cases have been reported in the literature. To the authors’ knowledge, multiple congenital colonic stenosis has not been previously reported in the literature. We report the case of a 2-month-old male, presented at our Neonatal Intensive Care Unit with a suspicion of intestinal malrotation. Clinical examination revealed persistent abdominal distension. During the enema examination, the contrast medium appeared to fill the lumen of the colon up to three stenotic segments and could not proceed further. Intraoperatively we confirmed the presence of four types of colonic atresia, located in the ascending, transverse,…
Cementless total hip replacement with subtrochanteric femoral shortening for severe developmental dysplasia of the hip.
2003
Total joint replacement in patients suffering from developmental dysplasia of the hip poses specific technical difficulties due to insufficient bone stock at the site of the original and secondary acetabulum and a narrow, cranially displaced proximal femur. Twelve hips with severe congenital dislocation (4 Crowe type II, 5 type III, 3 type IV) were treated with cementless, porous structured total hip replacement. The cup was implanted at the anatomic height, a femoral segment was resected below the minor trochanter to reduce the femoral component in all cases. One femoral component was exchanged for a longer stem after 2 months due to insufficient fit and fill. After a mean follow-up of 5.1…
Chondrodysplasia punctata, tibia-metacarpal (MT) type.
1990
We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.
Mucopolysaccharidoses and other lysosomal storage diseases.
2013
Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes. Patients are affected by a wide variety of symptoms. For some lysosomal storage diseases, effective treatments to arrest disease progression, or slow the pathologic process, and increase patient life expectancy are available or being developed. Timely diagnosis is crucial. Rheumatologists, orthopedics, and neurologists are commonly consulted due to unspecific musculoskeletal signs and symptoms. Pain, stiffness, contractures of joints in absence of clinical signs of inflammation, bone pain or abnormalities, osteopenia, osteonecrosis, secon…
congenital true cystic mass of the pancreas in a Young woman: which treatment?
2013
Aim. We report a case of congenital true pancreatic cyst with high level of enzymatic activity, rarely seen in young and children which, to the best of our knowledge, rarely has previously been reported. A young girl was admitted to our clinic with a history of abdominal swelling and pain during exercise for many months. A mobile, smooth, non-tender mass was palpated on the left side of the abdomen during physical examination. Ultrasonography and computed tomography imaging revealed a not subdivide cystic mass sized 11.51x8.2 cm. Methods. Surgical treatment was considered, but given the young age of the patient, we declined for fear of complications. Therefore, US-guided percutaneous draina…