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Biomedical subjects

K Gomez

Publications and source records attributed to K Gomez.

9 recordsLinked to original sources
PubMed2003

Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.

We report a kindred in which two siblings suffered spontaneous venous thromboses in the second decade of life. Further investigation showed reduced coagulation factor V (FV) activity and activated protein C resistance (APCR) ratio but no other thrombophilic abnormalities. The reduction in APCR ratio persisted in a modified APCR assay in which FV activity was normalized between test and control plasmas. Analysis of the FV gene showed that the thrombotic individuals had a complex genotype that included two novel point mutations c.529G>T and c.1250T>C resulting in FV E119X and FV I359T substitutions inherited on different alleles. Individuals in the kindred with FV E119X or FV I359T substitutions alone were asymptomatic. We suggest that the FV I359T substitution confers pro-thrombotic risk and APCR, but that this is only clinically manifest when co-inherited with the FV E119X allele. The FV I359T substitution creates a new consensus sequence for N-linked glycosylation within the FV heavy chain and we speculate that this abnormal glycosylation may disrupt activated protein C-mediated proteolysis of the variant FV and FVa.

Activated Protein C Resistance↗
PubMed2003

Intravenous salbutamol bolus compared with an aminophylline infusion in children with severe asthma: a randomised controlled trial.

BACKGROUND: The relative efficacies of aminophylline and salbutamol in severe acute childhood asthma are currently unclear. A single bolus of salbutamol was compared with a continuous aminophylline infusion in children with severe asthma in a randomised double blind study. METHODS: Children aged 1-16 years with acute severe asthma were enrolled if they showed little improvement with three nebulisers (combined salbutamol and ipratropium) administered over an hour and systemic steroids. Subjects were randomised to receive either a short intravenous bolus of salbutamol (15 micro g/kg over 20 minutes) followed by a saline infusion or an aminophylline infusion (5 mg/kg over 20 minutes) followed by 0.9 mg/kg/h. RESULTS: Forty four subjects were enrolled, with 18 randomly allocated to receive salbutamol and 26 to receive aminophylline. The groups were well matched at baseline. An intention to treat analysis showed that there was no statistically significant difference in the asthma severity score (ASS) at 2 hours between the two groups (median (IQR) 6 (6, 8) and 6.5 (5, 8) for salbutamol and aminophylline respectively, p=0.93). A similar improvement in ASS to 2 hours was seen in the two groups (mean difference -0.08, 95% CI -0.97 to 0.80), there was a trend (p=0.07) towards a longer duration of oxygen therapy in the salbutamol group (17.8 hours (95% CI 8.5 to 37.5) v 7.0 hours (95% CI 3.4 to 14.2)), and a significantly (p=0.02) longer length of hospital stay in the salbutamol group (85.4 (95% CI 66.1 to 110.2) hours v 57.3 hours (95% CI 45.6 to 72.0)). There was no significant difference in adverse events between the two groups. CONCLUSIONS: This study suggests that, in severe childhood asthma, there is no significant difference in the effectiveness of a bolus of salbutamol and an aminophylline infusion in the first 2 hours of treatment. Overall, the aminophylline infusion was superior as it significantly reduced the length of stay in hospital.

Abdominal Pain↗
PubMed2003

[Toxoplasma gondii and necrotizing retinitis: a case report].

Toxoplasmic retinochoroiditis is an important opportunistic retinal infection in immunodeficiency and elderly patients. The diagnosis of toxoplasmic retinochoroiditis is based primarily on characteristic ocular findings, with supportive serological evidence. It may present as diffuse necrotizing retinitis instead of a focal lesion. We report the original case of a 74-year-old woman who presented with blurred vision in her left eye lasting 3 months. In her medical history, the patient described a tuberculous infection evolving for some months, as well as agranulocytosis treated with Rifadine. Fundus examination revealed diffuse necrotizing retinitis, mainly at the nasal quadrant, with marked vitreitis in the left eye. Clinical recognition of atypical presentations is critical for timely antiparasitic drug therapy. This case initially was misdiagnosed as acute retinal necrosis syndrome. The correct diagnosis was confirmed by response to polymerase chain reaction studies of an intraocular specimen and histopathological analysis. The extensive necrotizing retinitis was nonhemorrhagic but associated with retinal detachment. Significant visual loss accompanied the infection. Toxoplasmosis should be considered as a cause of diffuse necrotizing retinitis in elderly and immunosuppressive patients. Older patients may be more susceptible to severe ocular Toxoplasma infections because of age-related decline in cell-mediated immunity and chronic underlying diseases.

Aged↗
PubMed2000

Combined ultrasound biometry, serum markers and age for Down syndrome risk estimation.

OBJECTIVE: To compare Down syndrome screening efficiency of the standard serum triple analyte screen to that of a four-component screen consisting of ultrasound biometry and serum markers in the second trimester. METHODS: The Down syndrome screening efficiency of the triple screen, i.e. alpha-fetoprotein (AFP), unconjugated estriol (E3), hCG and maternal age, was compared with the four-marker algorithm, i.e. humerus length, nuchal thickness, AFP and hCG plus maternal age. A quadrivariate Gaussian algorithm was used to calculate individual Down syndrome odds. Receiver operating characteristic (ROC) curves plotting sensitivity against false-positive rate were constructed for each algorithm and the areas under the curves were compared to determine which was superior. Sensitivity and false-positive rates at different Down syndrome risk thresholds were also compared. RESULTS: There were 46 cases of Down syndrome (1.9%) with 2391 normal singleton pregnancies in a referral population in which triple screen, fetal biometry and karyotype had been done. The gestational age range for the study was 14-24 completed weeks. The median maternal age for the study group was 35.0 years (14.0-46.0 years). The areas (SE) under the ROC curves were 0.75(0.04) and 0.93(0.02) for the standard triple and the four-marker screen, respectively (P < 0.001). At a 10% false-positive rate, detection was 45.7% for the triple and 80.4% for the four-marker screen. CONCLUSIONS: A new algorithm combining humerus length and nuchal thickness measurement with serum AFP, hCG and maternal age substantially improved Down syndrome screening efficiency compared with the traditional triple screen. The model appears promising and should be evaluated in an independent data set.

Adolescent↗
PubMed1998

Familial dup(5)(q15q21) associated with normal and abnormal phenotypes.

We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change.

Chromosome Aberrations↗
PubMed1998

Acute skin GVHD following syngeneic BMT for CLL.

A 41-year-old woman received a syngeneic BMT for CLL and subsequently developed acute skin GVHD. Transfusion-related allogeneic GVHD was excluded on the basis of an unchanged HLA type in circulating lymphocytes. Short tandem repeat PCR was used to confirm syngeneicity between donor and recipient. The patient had a personal and family history of autoimmune disease which may have made her particularly susceptible to development of syngeneic GVHD. The distinction between allogeneic and syngeneic or autologous GVHD is important because of therapeutic implications.

Acute Disease↗
PubMed1995

Fifth digit measurement in normal pregnancies: a potential sonographic sign of Down's syndrome.

The objective of the study was to obtain measurements of the fetal fifth finger, as a basis for further studies and for future comparison with fetuses with Down's syndrome. The study group included 173 karyotypically normal fetuses at 15-23 weeks' gestation. Routine biometric measurements were obtained on all, including biparietal diameter (BPD), femoral length (FL) and humeral length (HL), and the length of the fetal fifth finger. Linear growth of the fifth finger was observed across the range of gestational ages (GA), and a linear correlation was shown to exist between the length of the fifth finger and gestational age (y = -7.804 + 0.9079 x GA; r = 0.923; p < 0.0001), biparietal diameter (y = -3.7010 + 0.3043 x BPD; r = 0.913; p < 0.0001), femoral length (y = -0.0983 + 0.3406 x FL; r = 0.926; p < 0.0001), and humeral length (y = -1.3453 + 0.3982 x HL; r = 0.929; p < 0.0001). These results provide normative data of the length of the fetal fifth finger across a range of gestational ages. These data may provide an additional screening parameter for the prenatal detection of Down's syndrome.

Anthropometry↗
PubMed1994

The real-time and color Doppler appearance of adrenal neuroblastoma in a third-trimester fetus.

BACKGROUND: Neuroblastoma is the second most common malignant tumor of childhood. With the increasing use of ultrasound, prenatal recognition of this tumor is becoming more common. CASE: A 33-year-old woman presented at 38 weeks' gestation. A mass at the level of the left fetal renal pole was identified upon ultrasonography. Color Doppler and flow mapping were also evaluated. CONCLUSION: Ultrasound evaluation, color flow mapping, and Doppler flow studies of fetal neuroblastoma may be helpful in both diagnosis and management.

Adrenal Gland Neoplasms↗