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Biomedical subjects

M Suri

Publications and source records attributed to M Suri.

At least 19 recordsLinked to original sources
PubMed2003

Sonic hedgehog.

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Animals↗
PubMed2003

Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis.

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare differential diagnosis of hereditary haemochromatosis. It should be suspected in patients with raised ferritin levels, but no evidence of iron overload, and in the absence of mutations in the HFE gene. Awareness of this condition prevents unnecessary liver biopsies and allows accurate genetic counselling since HHCS is an autosomal dominant disorder. The danger of treating these patients by phlebotomy in the same manner as those with hereditary haemochromatosis is highlighted.

Adult↗
PubMed2002

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.

Holoprosencephaly (HPE) is a clinically variable and genetically heterogeneous central nervous system (CNS) malformation. Alobar HPE, which is its most severe form, is associated with a poor prognosis. At the milder end of the HPE spectrum microcephaly, hypotelorism, and single central maxillary incisor may be recognised. Currently, four genes have been identified for this condition. These include Sonic Hedgehog (SHH) on chromosome 7q36, which is thought to be responsible for a significant proportion of autosomal dominant HPE. We report an index case with alobar holoprosencephaly caused by an SHH mutation and six members of his family over two generations with this mutation, with a broad range of clinical presentation, including attention deficit hyperactivity disorder (ADHD). The combination of microcephaly, hypotelorism, subtle midline facial anomalies, and ADHD within a sibship should alert the physician to the possible diagnosis of HPE.

Adult↗
PubMed2000

MURCS association with encephalocele: report of a second case.

We report a female fetus with occipital encephalocele, dysraphism of the cervical spine, right renal agenesis and Mullerian agenesis. Additional findings included posterior cleft palate, absent left umbilical artery and Meckel's diverticulum. This fetus had the features of MURCS association with occipital encephalocele. This is the second report of encephalocele with MURCS association.

Abnormalities, Multiple↗
PubMed1999

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. In vitro green fluorescent protein fusion studies show that R225 mutations interfere with nuclear accumulation of CBFA1 protein. There is no phenotypic difference between patients with deletions or frameshifts and those with other intragenic mutations, suggesting that CCD is generally caused by haploinsufficiency. However, we were able to extend the CCD phenotypic spectrum. A missense mutation identified in one family with supernumerary teeth and a radiologically normal skeleton indicates that mutations in CBFA1 can be associated exclusively with a dental phenotype. In addition, one patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development.

Bone and Bones↗
PubMed1999

Hydrocortisone-induced inhibition of reactive oxygen species by polymorphonuclear neutrophils.

OBJECTIVE: To determine whether hydrocortisone given intravenously inhibits reactive oxygen species (ROS) generation by polymorphonuclear neutrophils (PMNLs) in vivo and, if so, to describe the pharmacodynamics of this effect. DESIGN: A prospective, open label study in normal subjects. SETTING: A clinical research unit of a tertiary referral center for diabetes and endocrinology. PATIENTS: Eight normal subjects (age range, 2450 yrs). INTERVENTION: An indwelling cannula was inserted into the antecubital vein. Sequential blood samples were obtained from the cannula just before, and after, the intravenous injection of hydrocortisone (100 mg) at 1, 2, 4, 8, and 24 hrs. MEASUREMENTS AND MAIN RESULTS: ROS generation by PMNLs and mononuclear cells (MNCs) was assayed as previously observed in a chemiluminometer. ROS generation by PMNLs and MNCs was inhibited by hydrocortisone at 1 hr; this effect peaked at 2 hrs and began to recover by 4 hrs; ROS generation had recovered to the baseline by 24 hrs. Although the pharmacodynamic effect of hydrocortisone on PMNLs and MNCs was similar, the peak inhibition was significantly greater for PMNLs (26% of basal vs. 43% of basal, p<.02) than MNCs. CONCLUSIONS: There is a marked, consistent, inhibition of ROS generation by PMNLs, which parallels that of MNCs after intravenous hydrocortisone. The pharmacodynamics of this effect are consistent with our current clinical practices.

Adult↗
PubMed1999

American Orthopaedic Foot and Ankle Society shoe survey of diabetic patients.

A one-page written survey was completed by 402 randomly selected patients with diabetes in five cities during a scheduled visit to their endocrinologist. Patients averaged 61.5 years of age and had been diagnosed with diabetes for 27.3 years. This study suggests that approximately 25% of adults with diabetes are at risk for developing foot ulcers, the precursor to deep infection leading to lower limb amputation. The goal at the inception of this project was to obtain benchmark data on the current level of prophylactic foot care being provided to adult patients with diabetes. The results of this survey suggest that most individuals with diabetes and their physicians are aware of potential diabetic foot morbidity, yet very few take advantage of prophylactic protective footware. Even fewer are presently taking advantage of benefits established through the Medicare Therapeutic Foot Bill. This survey highlights a substantial opportunity for improvement in the long-term care of individuals with diabetes.

Adolescent↗
PubMed1999

Chronic alcohol consumption during male rat adolescence impairs skeletal development through effects on osteoblast gene expression, bone mineral density, and bone strength.

BACKGROUND: The effect of chronic alcohol ingestion on bone formation is mediated through its direct actions on osteoblasts. The affected population of mature osteoblasts declines in both number and function resulting in decreased cancellous bone volume and cortical bone strength. Although the mechanism of action on osteoblasts is unknown, alcohol alters osteoblast gene expression and matrix synthesis. METHODS: Male rats consuming alcohol (EtOH) daily for 60 days from 35 days of age until 95 days of age (unrecovered group) were compared to rats switched to a regular diet of rat chow without EtOH for an additional 90 days (recovered group). The effects of chronic dietary EtOH on skeletal development during adolescence were examined in the unrecovered and recovered rats by hormonal analysis, bone mineral density determination, bone histomorphometry, metaphyseal gene expression for osteoblast-specific proteins, and biomechanical analysis. RESULTS: The unrecovered EtOH imbibing rats weighed less than their paired isocaloric-fed and ad libitum mates. Statistically significant reductions occurred in femur lengths in the unrecovered EtOH-fed group compared to controls. Serum testosterone levels were significantly decreased by EtOH consumption but returned to higher normal levels during the recovery period. Serum insulin-like growth factor-1 (IGF-1) levels were unaffected by EtOH. Serum osteocalcin levels in the unrecovered EtOH-fed group were higher than those in the recovered group but EtOH intake did not elevate the unrecovered levels compared to isocaloric or ad libitum control rats. Quantitative computed tomography (QCT) determination of bone mineral density (BMD) revealed a statistically significant reduction only in the distal femur metaphysis in the unrecovered EtOH-fed rats. BMD increased during recovery in the distal femur metaphysis and femur mid-cortex. Image analysis of midsagittal sections of the proximal tibial metaphysis of unrecovered rats revealed reductions in cancellous area, trabecular cellularity and thickness, and increased trabecular separation. Cortical widths were significantly reduced by chronic EtOH consumption. These changes remained statistically significant at the end of the recovery period. Four-point biomechanical testing of femurs from EtOH-fed and control unrecovered groups revealed significant reductions in cortical strength, energy-to-failure, and stiffness. These cortical characteristics returned to normal values with abstinence. Tibial metaphyseal alpha-1 type I collagen and osteocalcin mRNA expression levels were significantly elevated above the paired isocaloric control levels after 60 days of EtOH consumption. Metaphyseal alkaline phosphatase mRNA levels remained unaltered by EtOH consumption in the unrecovered group. After 90 days of abstinence alpha-1 type I collagen and alkaline phosphatase gene expression levels remained significantly elevated over the isocaloric and ad libitum control levels (collagen) and the isocaloric control value (alkaline phosphatase). However, metaphyseal osteocalcin mRNA levels declined to normal levels during abstinence. CONCLUSIONS: Chronic consumption of EtOH during the peripubertal period of skeletal growth leads directly to decreased metaphyseal and cortical bone mediated through effects on osteoblasts. Removal of EtOH from the diet is accompanied by incomplete restoration of normal bone metabolism during skeletal growth.

Age Factors↗
PubMed1997

Electrolyte disturbances due to ouabain sensitive sodium potassium pump in erythrocytes of children with sepsis.

The possible mechanism of hyponatraemia in septicaemic children was studied by measuring the intracellular red cell sodium in relation to ouabain sensitive Na(+)-K(+) pump by flame photometry. Hyponatraemia and hyperkalaemia were observed in most of the patients. There was a marked elevation in serum sodium levels and a significant reduction in serum potassium levels on recovery following therapy. The alteration in the distribution of electrolytes between plasma and erythrocytes resulted in significantly high levels of sodium and low levels of potassium within the erythrocytes of septicaemic patients which normalized on recovery. The ouabain sensitive sodium efflux rate and ouabain sensitive efflux rate constant were significantly decreased in the membranes of erythrocytes of septicaemic patients which also normalized on recovery. Our findings suggest that it is the intrinsic alterations in the transport capacity of Na(+)-K+ pump which could account for the rise in intracellular erythrocyte sodium and fall in intracellular potassium contents in septicaemic children.

Child↗
PubMed1995

A clinical and cytogenetic study of Turner syndrome.

Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45, X karyotype had short stature (85%), dysmorphic facies (60%), delayed appearance of secondary sexual characters (100%) and primary amennorhea (100%). Those with 45, X/46, XX mosaicism were less often dysmorphic and presented with either primary or secondary amenorrhea. Patients with 45, X karyotype were younger at diagnosis and had a significantly shorter mean adult height than those with 45, X/46, XX mosaicism. The phenotype in patients with other karyotypic abnormalities was similar to the 45, X group. Short stature and primary or secondary amenorrhea occurring together in a female strongly suggests the possibility of Turner syndrome, which should be confirmed by chromosomal analysis.

Adolescent↗
PubMed1995

Denys-Drash syndrome.

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Disorders of Sex Development↗
PubMed1995

Clinical and biochemical studies in homocystinuria.

Homocystinuria was diagnosed in 15 (0.59%) cases on screening 2560 children for aminoacidopathies. The commonest presenting features were ectopia lentis (95%) and mental retardation (86%). Other features included, dental anomalies (40%), osteoporosis (40%), behavioral problems (33%) and arachnodactyly (13%). Diagnosis was confirmed by iodoplatinate staining of one dimensional paper chromatography of urine. All the 15 cases of homocystinuria were first treated with high dose oral pyridoxine. Only one case responded to pyridoxine therapy. All the other patients were started on a low methionine, High cysteine diet with folate supplementation. Only one patient showed a complete response to dietary therapy. Nonavailability and high cost of the commercially available methionine-free, cysteine-supplemented diet and late diagnosis were responsible for the poor response in the majority of our patients.

Child↗
PubMed1994

Poland anomaly with unusual associated anomalies: case report of an apparent disorganized defect.

We report on a 2 1/2-year-old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper limb anomalies, and anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, syndactyly of toes, and toenail hypoplasia. Other anomalies included undescended testis, hairy nevus in the lumbosacral region, and a pedunculated finger-like tag on the right thigh. The pathogenesis of these associated anomalies cannot be explained on the basis of compromised local blood supply alone. A possible link with the disorganization mutation is discussed.

Abnormalities, Multiple↗