Biomedical subjects

T W Kurczynski

Publications and source records attributed to T W Kurczynski.

At least 19 recordsLinked to original sources

PubMed1995

Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease.

Generalized anhidrosis with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23-year-old man who was shown by enzyme studies and electron microscopy to have Fabry disease. His 6-year-old brother had the early diagnostic findings of episodic painful fingers, heat intolerance, and retroauricular telangiectasia. Both had an absence of alpha-galactosidase. Over 6 years of observation, the older brother developed progressive renal failure and the younger one developed acrodynia and anhidrosis. Their mother had diminished alpha-galactosidase activity and several angiomatous papules on one breast. A review of Fabry disease emphasizes the need for skin inspection for angiomas and telangiectasia, and enzyme assay in patients with inexplicable complaints or findings. Carrier females are most easily recognized by the presence of unique corneal opacities.

Adult↗

PubMed1994

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM.

Abnormalities, Multiple↗

PubMed1992

Evaluation of the Health Belief Model and decision making regarding amniocentesis in women of advanced maternal age.

The Health Belief Model (HBM) was developed as an attempt to explain an individual's decision regarding obtaining preventive health care. This model was applied to predict the decisions of women of advanced maternal age regarding their obtaining amniocentesis in a one-year study conducted in Toledo, Ohio. A questionnaire based on the HBM was administered to a sample of 98 pregnant women of advanced maternal age. A total of 96 questionnaires were eligible for inclusion in the study. Sixty-one women reported that they would have amniocentesis, 22 would not, and 13 were unsure. A multivariate analysis of variance among amniocentesis decision groups was performed using the health belief components (perceived susceptibility, perceived seriousness, perceived benefit, perceived barrier) and knowledge as variables. There was a significant difference (Wilks' criterion, p less than .0001) among the three decision groups, but the differences were in the health belief components and not in knowledge. A stepwise discriminant function analysis was used to classify subjects on the amniocentesis decision. Of the variables examined, only the HBM component perceived benefit factor was a significant discriminant (p = .0001). It is not necessarily the lack of knowledge that prevents women who are at risk because of advanced maternal age from having amniocentesis but their perceptions regarding amniocentesis. Genetic counselors need to focus more on exploring the perceptions of amniocentesis benefits in this population to facilitate the decision making process.

Adult↗

PubMed1991

Congenital lung herniation.

Congenital lung herniation is a rare condition. It is usually associated with a costal cartilage defect. We report on a newborn boy with a partial lung herniation through the parietal pleura and skin associated with a sternal malformation. We propose the herniation occurred around the fifth month of fetal life and interfered with sternal ossification.

Follow-Up Studies↗

PubMed1991

Marfanoid children. Etiologic heterogeneity and cardiac findings.

The clinical, cardiac, and echocardiographic test results of 20 children with marfanoid features are reviewed. Fifteen were diagnosed as having Marfan syndrome, two had "possible" Marfan syndrome, and three had other diagnoses. On first evaluation, eight patients with Marfan syndrome (53%) had mitral regurgitation and none had aortic regurgitation. Echocardiography showed aortic root enlargement in 12 (80%) of 15 patients and mitral valve prolapse in 12 (80%) of 15. None had a normal echocardiogram. At follow-up examination, one patient had developed aortic root enlargement, and one patient, mitral valve prolapse. Thus, although aortic root enlargement is usually present in early childhood in patients with Marfan syndrome, it is not considered specific because in this study it also occurred in one child with Alport's syndrome and in one with marfanoid features. Four patients with aortic root enlargement were treated with propranolol and their echocardiograms showed no further increase in the aortic root diameter for several years. We recommend echocardiography in the diagnosis and routine management of children in whom Marfan syndrome is suspected.

Aortic Diseases↗

PubMed1990

Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging.

A case of fetal autosomal dominant microcephaly was prenatally diagnosed with ultrasonography in a woman with previously undiagnosed microcephaly. At the time of initial ultrasonographic assessment, the mother was identified to have a markedly small cranium, consistent with maternal microcephaly. The ultrasonographic examination showed the fetal head size to be four standard deviations below the mean for gestational age. Gestational dating from the other biometric parameters and from the last menstrual period was consistent with 31 weeks' gestation. Neurosonographic evaluation of the fetus revealed no obvious structural abnormalities. Serial ultrasonographic examinations at 35 and 38 weeks' gestation showed no changes in the fetal head size. A 2.64 kg male fetus was delivered at term. Neonatal assessment showed the fetal head circumference to be less than the second percentile for gestational age. Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cerebral hemispheres, and pachygyria. These images are compared with the magnetic resonance images of the mother. Our findings of maternal and fetal microcephaly are consistent with autosomal dominant microcephaly. To our knowledge, this is the first report of the prenatal diagnosis of autosomal dominant microcephaly.

Adult↗

PubMed1990

Agnathia malformation complex associated with a cystic distention of the oral cavity and hydranencepahly.

A fetus with a severe variant of the agnathia malformation complex (AMC) was delivered following prenatal diagnostic evaluation with ultrasonography. The constellation of anomalies that accompanied the agnathia included holoprosencephaly, hydranencephaly, situs inversus, and polysplenia. Recently, several authors have reported the association between the agnathia, holoprosencephaly, and situs inversus. We present evidence which suggests that, when hydranencephaly is also present, this may represent the most severe variant of the AMC. Our case is presented, the literature is reviewed, and a hypothesis regarding the embryopathologic mechanism is discussed.

Abnormalities, Multiple↗

PubMed1989

Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.

Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.

Abnormalities, Multiple↗

PubMed1989

In utero diagnosis of benign fetal macrocephaly.

Benign familial macrocephaly is an autosomal dominant disorder associated with a large absolute circumference of the head. In this disorder serial growth demonstrates a proportional rather than an excessive rate of growth. To date, we are not aware of any published case reports that confirm the diagnosis prenatally. We report a case of benign familial macrocephaly diagnosed in utero by ultrasonographic evaluation. This case report points out the necessity of combining appropriate family history and physical examination in cases of prenatally detected anomalies.

Adult↗

PubMed1989

A case of de novo trisomy 12p syndrome.

A case of pure 12p trisomy was discovered in a 14-year-old boy during a cytogenetic survey of Egyptian students attending a school for mentally retarded children. The patient had a normal birth weight but later showed developmental delay. Clinical examination at 14 years of age revealed a high bulging forehead, broad and flat nasal bridge, large mouth with everted lower lip, folded upper ear helix with protuberant antihelix, pectus excavatum, undescended testes, flat feet, generalized hypotonia and moderate mental retardation. Chromosomes analyzed from blood lymphocytes showed an enlarged short arm with an additional band on one of the no. 12 chromosomes. The duplicated chromosomal material extended from 12pter----p12.2, including the LDH-B locus, which showed a gene-dosage effect. This extra chromosomal material arose de novo by tandem duplication. The parents' chromosomes were normal.

Adolescent↗

PubMed1989

Metabolic studies of carnitine in a child with propionic acidemia.

Carnitine metabolism was studied in a 7-y-old boy with propionic acidemia due to an almost total deficiency of propionyl-CoA carboxylase. The initial diagnosis was made at 3 wk of age followed by numerous episodes of metabolic acidosis despite a low-content branch-chain amino acid diet containing supplemental biotin. Although clinically stable and in a nonacidotic state, the plasma concentration of total carnitine was normal (38.9 microM; normal = 46 +/- 10, mean +/- SD, n = 30) whereas free carnitine was decreased (5.7 microM; normal = 37 +/- 8) and short-chain acylcarnitines were increased (28.6 microM; normal = 5.7 +/- 3.5). Skeletal muscle and liver specimens obtained at open biopsy had low total and free carnitine contents and increased ratio of short-chain acylcarnitines to free carnitine. Short-chain acylcarnitine content was low in liver but increased in skeletal muscle. The liver contained fatty vacuoles, enlarged mitochondria with paracrystalline inclusions, and numerous peroxisomes whereas the skeletal muscle also had lipid vacuoles and an increase in number and size of mitochondria. A carnitine challenge test (100 mg L-carnitine/kg body wt via a gastrostomy tube) resulted in a peak plasma carnitine concentration at 120 min. With maintenance therapy of 100 mg L-carnitine/kg/day the plasma free carnitine remained relatively low, the plasma glycine concentration decreased, and urinary acylcarnitine excretion increased. This study demonstrates that the alterations in carnitine and its derivatives observed in plasma and urine reflect the same type of altered distribution in tissue and provides further data on the effects of L-carnitine therapy.

Carnitine↗

PubMed1989

Elevated maternal serum alpha-fetoprotein values. How low is high?

Most maternal serum alpha-fetoprotein (MSAFP) screening programs are set up with the goal of prenatal detection of fetal neural tube defects. It is also commonly accepted that MSAFP testing yields many false-positive results. Screening programs commonly utilize schemata that identify abnormal levels of MSAFP as greater than 2.5 multiples of the median (MOM) and also recommend two abnormal values before initiating ultrasound evaluation. Our pilot program evaluating obstetric outcomes found that 21 of the 29 women with elevated MSAFP values (greater than 2.0 MOM) eventually developed significant pregnancy management changes or complications of pregnancy. Thus, we believe that the use of MSAFP screening solely for the purpose of detecting fetal neural tube defects is inconsequential relative to its usefulness in detecting other pregnancy abnormalities. We also believe that ultrasound evaluation should be accomplished after the first abnormal value and that the cutoff of 2.5 MOM should be lowered to at least 2.0.

Adult↗

PubMed1988

Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18) (p22;q21.3) translocation.

We have studied two sisters with partial deletion 9p and partial duplication 18q resulting from adjacent 1 segregation of a maternal translocation (9;18) (p22;q21.3). The clinical manifestations identified in our patients were compared with those reported in the literature for 9p- and 18q+ patients involving approximately the same amount of genetic material. There was relatively greater similarity with the 9p- syndrome than with dup (18q) syndrome, but typical characteristics of both conditions were lacking.

Abnormalities, Multiple↗

PubMed1988

Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.

A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those previously described.

Craniosynostoses↗

PubMed1988

Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging.

A case of Pena-Shokeir syndrome type I was diagnosed prenatally with ultrasonography and magnetic resonance imaging (MRI) in a woman with a possible previous occurrence. Initial ultrasonographic examination at 18.5 weeks' gestation demonstrated an unusual appearance of the fetal spine in an otherwise unremarkable fetus. However, subsequent sonographic examinations at 26 and 28.5 weeks demonstrated polyhydramnios and multiple skeletal, brain, and facial abnormalities. Magnetic resonance imaging, performed to further evaluate the fetal brain, confirmed the sonographic findings. However, MRI was not useful in further differentiating the diagnosis. A 1024-g, premature male fetus was delivered at 30 weeks' gestation and died within 30 minutes of delivery. The fetus had multiple congenital anomalies consistent with Pena-Shokeir syndrome type I.

Abnormalities, Multiple↗

PubMed1987

New Marfanoid syndrome with craniosynostosis.

We report on a patient with various connective tissue abnormalities suggesting a distinctive disorder combining some features of the Marfan syndrome with craniosynostosis and other anomalies. A comparison is made with the Marfan syndrome and other phenotypically similar conditions.

Adolescent↗

PubMed1986

Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations.

We have studied female cousins with partial duplication of 12q. The cousins' mothers (who are sisters) and the maternal grandmother and great grandmother carried a balanced translocation between chromosomes 11 and 12. We have compared our patients with eight other reported cases of partial duplication of the same chromosome segment (12q24----12qter). Placement of the extra material seems to have little effect on the anomalies present; (only two other cases involved chromosome 11). We propose that our patients provide further evidence that duplication of 12q leads to a clinically identifiable syndrome.

Abnormalities, Multiple↗

PubMed1986

Tissue-specific mosaicism for the stability of a ring 13 chromosome.

A ring 13 chromosome was identified in an infant whose chromosomes were studied because of microcephaly. The ring chromosome was studied over a 3-year-period in lymphocytes, and in both short- and long-term fibroblast cultures. Lymphocyte cultures revealed a consistently stable ring 13 chromosome with minimal loss of genetic material (the distal portion of band q34). Fibroblast cultures contained a ring chromosome a quarter of the size of the original ring and this chromosome was unstable in short- and long-term cultures. The patient's mild dysmorphic features and moderate mental retardation correlate with a stable ring chromosome in which only a small amount of genetic material has been lost rather than with the unstable small ring 13 chromosome observed in fibroblast cultures. The observation of drastic tissue specific differences in ring sizes and stability makes phenotypic karyotypic correlations with ring chromosome patients even more difficult and counselling in cases of prenatal diagnosis questionable.

Chromosome Aberrations↗