Hypocalcemia due to chronic hypoparathyroidism presents with nonspecific symptoms. However, if untreated, hypocalcemia may affect neurological, cognitive, muscular, and cardiac function. Computed tomography (CT) findings may confirm a diagnosis of chronic hypoparathyroidism. Although autoimmune acquired hypoparathyroidism is a rare disease, early diagnosis and treatment are critical for avoidin...

Seven previous cases of ring chromosome 7 (r(7)) have been reported in association with minor anomalies with and without mental retardation [Zackai and Breg, 1973; Nakano and Miyamoto, 1977; DeLozier et al., 1982; Barros et al., 1986; Kohyama et al., 1988; Koiffmann et al., 19901. All of the reported patients had evidence of mosaicism with the r(7) line predominating and low frequencies of doub...

BACKGROUND The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. Less is known about associations with presence of non-chromosomal anomalies. METHODS Records of children diagnosed with cancer at <20 years of age during 1984-2013 in Washington State cancer registries were lin...

Genetic causes can be directly responsible for various clinical conditions of male and female infertility and genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders. Chromosome abnormalities account for 60% of all spontaneous abortions, and the most common type, trisomy, is closely...

Deluded people differ from nondeluded controls on attributional style questionnaires and probabilistic-reasoning and theory-of-mind (ToM) tasks. No study to date has examined the relations between these 3 reasoning anomalies in the same individuals so as to evaluate their functional independence and potentially inform theories of delusion formation. We did so in 35 schizophrenic patients with a...

One hundred and sixty nine patients with anorectal malformation were studied: there were 108 boys, 60 girls, and one case of intersex. Low malformations were more common in both sexes. Over half the subjects had associated malformations. These were more common in the group with high malformations. There was no difference between the sexes in this respect. A family history of similar malformatio...

in this descriptive study, researchers determined rate and type of newborn infants’ anomalies in rafsanjen niknafas hospital in 1991-1995.  this study is resulted from medical records of mothers referring to above mentioned center during five years. total number of child birth was 21187. 17321 was normal vaginal delivery and 3866 was cesarean section. because of unknown reasons, 57 infants were...

Background Pediatric vascular anomalies comprise a heterogeneous group of clinical disorders of varying severity. These anomalies are divided into vascular tumors or vascular malformations. Different therapeutic strategies have been used depending on the pathology in question. In recent years, mammalian target of rapamycin (mTOR) inhibitors have been explored as a therapeutic option in patients...

Mullerian duct anomalies are an uncommon but often treatable cause of infertility. Patients with müllerian duct anomalies are known to have a higher incidence of infertility, repeated first-trimester spontaneous abortions, fetal intrauterine growth retardation, fetal malposition, preterm labor, and retained placenta. The role of imaging is to help detect, diagnose, and distinguish surgically co...

Anorectal malformations (ARM) are associated with a myriad of congenital anomalies. The prevalence rates of associated anomalies range from 20% to 80%, commonest being urogenital anomalies. Other important associations and syndromes include Down syndrome and VACTERL (vertebral, anorectal, cardiac, trachea-esophageal, renal, limb) anomalies [1]. ARM has rarely been described in association with ...