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Biomedical subjects

P Lapunzina

Publications and source records attributed to P Lapunzina.

14 recordsLinked to original sources
PubMed2003

Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.

We describe a girl with congenital heart defect (ventricular septal defect), facial, ear and bone anomalies, agenesis of corpus callosum and conventional cytogenetic studies showing tetrasomy 8p. The identity of the isochromosome was confirmed by fluorescent in situ hybridization (FISH) using painting, subtelomeric and alpha satellite probes for chromosome 8. The extra isochromosome was observed in 100% of cultured peripheral lymphocytes (47,XX,+i(8)(p10)), but normal chromosomes were recorded in cultured amniotic fluid. Microsatellites analysis of the patient's DNA with two markers mapping 8p showed three different peaks, and two markers mapping 8q showed two peaks. To the best of our knowledge, this patient represents the twelfth reported case of tetrasomy 8p. In addition, our report is the first case with a pure tetrasomy 8p in blood, (the other published cases are mosaic 8p), and the second case with a discordance of amniotic fluid and blood karyotypes [Robinow et al., 1989: Am J Med Genet 32:320-324].

Abnormalities, Multiple↗
PubMed2002

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.

We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Such a mechanism of inheritance should be taken into account when counselling families with congenital hydrocephaly due to aqueduct stenosis.

Adult↗
PubMed2002

[Crouzon's syndrome with acanthosis nigricans].

Crouzon's syndrome is a complex craniosynostosis disorder due to mutations in fibroblast growth factor receptor (FGFR) type 2. We report a female patient with Crouzon's syndrome associated with acanthosis nigricans. The molecular abnormality in this patient is a point mutation (Ala391Glu) in the transmembrane domain of another FGFR (type 3), which is very close to the mutation (Gly380Arg) most frequently observed in achondroplasia. Acanthosis nigricans is an emerging disorder. Its clinical features and molecular findings differ from those of isolated Crouzon's syndrome. These data are very useful when molecular tests are required for prenatal diagnosis.

Acanthosis Nigricans↗
PubMed2001

Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?

We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta. Some of these features are consistent with the diagnosis of the Genoa syndrome, (MIM 601370) a rare autosomal recessive disorder recently described. The findings of other serious and previously undescribed malformations, however, raises the possibility of a newly recognized disorder.

Abnormalities, Multiple↗
PubMed2000

Mitral and tricuspid valve rupture after moderate blunt chest trauma.

We present a patient with rupture of both atrioventricular valves in a previously healthy adult man who sustained a 5-foot fall. The mechanism of injury was such that it would not necessarily raise an adequate index of suspicion for valvular damage had valvular rupture not occurred. The usefulness of perioperative echocardiography is highlighted.

Accidental Falls↗
PubMed1998

Research in two large pediatric residencies in Argentina.

PURPOSE: To obtain data about residents' research, knowledge of informatics, and proficiency in English in two pediatric residencies in Argentina. METHOD: Data collected in 1996 using a ten-item questionnaire were evaluated using EpiInfo software. Regression coefficients, odd ratios, and confidence intervals were calculated using logistic multivariate regression analysis (Hosmer-Lemeshow test). RESULTS: Of 249 residents surveyed, 227 (91.1%) answered the questionnaire. Of those, 224 (98.7%) thought that research during residency was useful; 63% believed that research should be required to obtain residency certification. One third of the respondents had presented at least one work or poster, or had published at least one research article. Among the two thirds who had not done so, the majority explained that they had been hindered by lack of mentors, time, or institutional support. Seventy-five percent of the respondents were reasonably proficient in English. A statistically significant association was found between knowledge of how to use statistical software and publication of papers (OR 4.5; 95% CI, 1.37-15.62; p < .003). CONCLUSION: The vast majority of respondents thought that research was useful and should be included in pediatric residency programs. Most thought that it should be required to obtain residency certification. If it is to be required, it should include trained, full-time mentors, time exclusively devoted to research, and courses in research methodology, informatics, and statistics.

Argentina↗
PubMed1998

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.

Carcinoma, Hepatocellular↗
PubMed1995

Mulibrey nanism: three additional patients and a review of 39 patients.

We report on 3 patients with Mulibrey nanism (MN), or Perheentupa syndrome: the first 2 sibs from Argentina and a new patient from Spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and life-threatening abnormality in this syndrome. MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment.

Abnormalities, Multiple↗
PubMed1995

Rothmund-Thomson syndrome and Addison disease.

We report an 18-year-old man with the unusual combination of Rothmund-Thomson syndrome (RTS) and Addison disease. He was admitted when he was 26 months old because of short stature, dehydration, metabolic acidosis, hyperpigmentation, and typical skin lesions. Because his growth remained delayed, at age 10 years he was given a trial of recombinant growth hormone. After six years of treatment no improvement in height, bone, or sexual maturation was observed. This fact may be related to a defect in connective tissue metabolism. Chromosomal analysis of peripheral blood lymphocytes revealed increased numbers of breaks and gaps. Fibroblasts cultured from affected skin did not grow. Patients with RTS are prone to developing cancer, but no malignant disease was found in our patient. Early diagnosis and treatment of both endocrinologic and malignant complications are essential for survival of patients with this rare syndrome.

Acidosis↗
PubMed1993

Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex.

We have studied 4 infants with oculo-auriculo-vertebral (OAV) complex or Goldenhar "syndrome" who also had severe axial anomalies, including multiple vertebral segmentation errors affecting the thoracic and the lumbar spine. One of them presented a previously unreported pattern of vertebral and rib anomalies similar to spondylocostal dysostosis. Three patients had twins, and all 4 patients had other associated non-skeletal malformations which affected the midline, i.e., cleft lip and palate, esophageal atresia with tracheoesophageal fistula, and ventricular septal defect. The broad extent of the axial anomalies, the association with midline defects and twinning, and the combination in the same patient of two distinct conditions support the concept that OAV complex is a polytopic developmental field defect arising during blastogenesis.

Abnormalities, Multiple↗