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Biomedical subjects

A E Arisoy

Publications and source records attributed to A E Arisoy.

10 recordsLinked to original sources
PubMed2006

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

BACKGROUND: Thyroid dysgenesis is the most frequent cause of congenital hypothyroidism (CH), and its genetic basis is largely unknown. Hitherto, two mutations in the human thyroid transcription factor 2 (TTF-2) gene have been described in unrelated cases of CH with cleft palate, spiky hair, variable choanal atresia, and complete thyroid agenesis. Here, we describe a novel TTF-2 mutation in a female child resulting in syndromic CH in the absence of thyroid agenesis. RESULTS: The index case is homozygous for an arginine to cysteine mutation (R102C) of a highly conserved residue within the forkhead, DNA binding domain of TTF-2. Her consanguineous, heterozygous parents are unaffected, and the mutation was not detected in 100 control chromosomes. Consonant with its location, the R102C mutant TTF-2 protein showed loss of DNA binding and was transcriptionally inactive. CH in the proposita was associated with cleft palate, spiky hair, and bilateral choanal atresia. However, radiological studies showed the presence of thyroid tissue in a eutopic location. CONCLUSION: Our findings indicate that human thyroid development can occur despite loss of TTF-2 function and suggest that TTF-2 gene defects should also be considered in cases of syndromic CH without total athyreosis.

Amino Acid Sequence↗
PubMed1996

Bilateral inflammatory linear verrucous epidermal nevus associated with psoriasis.

Inflammatory linear verrucous epidermal nevus is a benign hyperplasia of the epidermis. Bilateral distribution of inflammatory linear verrucous epidermal nevus is an extremely rare presentation. Although inflammatory linear verrucous epidermal nevus is generally accepted as a distinct entity, it has similar clinical and histopathologic features to psoriasis, or they occasionally may overlap. We report the case of an 8-year-old boy with bilateral inflammatory linear verrucous epidermal nevus who also had psoriasis.

Child↗
PubMed1995

Chest and mid-arm circumferences: identification of low birth weight newborns in Turkey.

The present study was performed to find out which anthropometric measurement(s) could efficiently be substituted for weight to detect neonates with low birth weight at birth. A total of 874 neonates, between 32 and 43 weeks of gestational age were measured within 24 h of birth to interpret the validity of anthropometric measurements. Low birth weight was observed in 10 per cent of the neonates. The study showed a significant correlation (P < 0.001) between chest circumference, mid-arm circumference, head circumference, length, and birth weight. However, the correlation was maximum for chest circumference (r = 0.855) and mid-arm circumference (r = 0.791). A chest circumference of < 30 cm and a mid-arm circumference of < 9 cm had the best sensitivity and specificity for identifying neonates with a birth weight of < 2500 g. Chest circumference and/or mid-arm circumference can be used as simple and reliable indicators for predicting low birth weight whenever weighing of newborns is not feasible.

Anthropometry↗
PubMed1994

Clinical significance of fungi isolated from cerebrospinal fluid in children.

We reviewed the isolation of fungi from cerebrospinal fluid (CSF) cultures at Texas Children's Hospital during the past 6 years to evaluate the significance of a positive culture and to identify potential risk factors. Thirty-seven fungal isolates were recovered from 23 patients representing 2% of all 1498 positive CSF cultures for the study period. Candida species accounted for 94.5% of all fungal isolates. Nine of the 23 patients were newborns and 8 of these were very low birth weight premature neonates. C. albicans was recovered from the CSF of all newborns. Eleven patients were children 4 months to 14 years old. Three patients had positive cultures of CSF obtained on postmortem examination. Leading potential risk factors for positive CSF cultures from neonates included antimicrobial therapy, prematurity, very low birth weight, umbilical catheterization, total parenteral nutrition, intubation and respiratory distress syndrome. For children beyond the newborn period, potential risk factors were antimicrobial therapy for concurrent bacterial infection, chronic systemic or central nervous system disease and central venous cathterization. Disseminated fungal infection was documented in 40% of all patients with positive CSF cultures. Fungi recovered from 7 (35%) of 20 live patients were considered contaminants. We conclude that true fungal meningitis in children is accompanied by multiple positive cultures from CSF or CSF and a second site. A single positive CSF culture for fungi should be considered significant when both CSF findings compatible with meningitis and associated risk factors are present. The isolation of fungi from a single CSF culture can be considered insignificant when CSF findings are within normal limits despite the presence of potential risk factors or vice versa.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

Tay-Sachs disease: a case report.

Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A. The case presented is of a twelve-month-old girl brought to the hospital because of mental-motor deterioration and convulsions. She was the child of first cousins and had a history of the deaths of two siblings with the same manifestations. Generalized hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot appearance were present. There was no organomegaly. The diagnosis of Tay-Sachs disease was made by means of absence of serum hexosaminidase A activity.

Age of Onset↗