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Biomedical subjects

M L Levin

Publications and source records attributed to M L Levin.

At least 19 recordsLinked to original sources
PubMed1997

The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties.

We describe a brother and sister with a unique combination of skeletal findings including camptodactyly (phalangeal dislocations), facial anomalies, neonatal respiratory problems, and feeding problems due to poor suck. Metaphyseal splaying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures characterize the other skeletal abnormalities. The parents are first cousins once removed and are unaffected. These cases appear to represent a previously undescribed autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1997

Adolescent heterosexual experience: a new typology.

PURPOSE: The purpose of this paper is to define a typology that encompasses the full range of adolescent heterosexual behavior; to compare the usefulness of the new typology with that of the traditional dichotomy of "sexually active"/"sexually inactive" for understanding sexual behavior among adolescents; and to determine the implications of the new typology for the design and implementation of HIV prevention programs targeting adolescents. METHODS: Detailed face-to-face interviews were conducted with a cross-sectional sample of 907 mothers and their adolescents, ages 14-17 years, recruited from public high schools in Alabama, New York, and Puerto Rico. Information from the adolescent survey on precoital sexual behaviors and STD/HIV sexual risk and risk reduction behaviors was examined. A typology of adolescent heterosexual experiences was constructed using four behavioral dimensions. RESULTS: Ninety-nine percent (n = 894) of the sample was classified into one of the five patterns of sexual experience: Delayers, Anticipators, One-timers, Steadies, and Multiples. Among the participants who were not sexually active, precoital behaviors differed significantly between the 22% who anticipated initiating sexual intercourse in the next year (Anticipators) and those who did not (Delayers). Among those traditionally classified as "sexually active", One-timers and Steadies were significantly older when they first had penile-vaginal intercourse than those who had multiple partners. One-timers were more likely to use condoms than Steadies or Multiples, and only Multiples reported previous STDs. CONCLUSION: A typology that defines a range of adolescent heterosexual experiences was developed, and it was possible to classify 99% of our sample. The traditional dichotomy between "sexually active" vs. "not active" hides important behavioral intentions and sexual practices. These differences must be taken into account in the development and implementation of HIV prevention programs that target adolescents.

Adolescent↗
PubMed1996

A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.

The X-linked developmental mouse mutations bare patches (Bpa) and striated (Str) may be homologous to human X-linked dominant chondrodysplasia punctata (CDPX2) and incontinentia pigmenti (IP2), respectively, based on their genetic mapping and clinical phenotypes. Bpa and Str have been localized to an overlapping critical region of 600 kb that demonstrates conserved gene order with loci in human Xq28 between DXS1104 and DXS52. As part of efforts to isolate the genes involved in these disorders, we have begun to develop a comparative transcription map spanning this region in both species. Using techniques of cross-species conservation and hybridization, exon trapping, and cDNA selection we have identified four known genes or members of gene families--caltractin, a member of the gamma-aminobutyric acid (GABAA) receptor gene family, a member of the melanoma antigen gene (MAGE) family, and several members of the murine-specific, X-linked lymphocyte regulated gene (Xlr3) family. Trapped exons and, in some cases, longer cDNAs have been isolated for potentially 7-9 additional genes. One cDNA demonstrates highly significant homology with members of the Krüppel family of zinc finger transcription factors. A second novel cDNA demonstrates homology at the 3' end of the predicted amino acid sequence to a LIM domain consensus. Gene order appears conserved among those cDNAs determined to be present in both human and mouse. Three of the murine transcripts appear to be present in multiple copies within the Bpa/Str critical region and could be associated with a predisposition to genomic rearrangements. Reverse transcriptase PCR (RT-PCR) and Northern analysis demonstrate that several of the transcripts are expressed in mid-gestation murine embryos and neonatal skin, making them candidates for the Bpa and Str mutations and their respective homologous human disorders.

Amino Acid Sequence↗
PubMed1995

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.

We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient's phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion.

Abnormalities, Multiple↗
PubMed1994

Unilateral renal papillectomy via laser or incisional techniques: chronic functional effects in the dog.

OBJECTIVE: To determine if selective renal papillectomy would impair urinary concentrating ability, thereby decreasing urinary calcium concentration. METHODS: Left papillectomy was performed in dogs using either incisional (n = 6) or Neodymium:yttrium-aluminum-garnet (Nd:YAG) laser (n = 5) techniques. Split renal function studies were then performed four months postoperatively to determine the effect on multiple parameters including inulin and para-aminohippurate (PAH) clearance, free water reabsorption, and calcium concentrations. Partially infarcted kidneys (n = 6) were evaluated in a similar fashion to determine the role of impaired glomerular filtration rate (GFR) in the observed concentrating defect occurring after papillectomy. RESULTS: Papillectomized kidneys demonstrated impaired free water reabsorption, resulting in a decreased urinary osmolality and an increased fractional excretion of water. Osmolar clearance [Na+] and Na+ excretion were unaffected by papillectomy, whereas [Ca++] was significantly reduced. While a slight defect in free water reabsorption existed following partial infarction, urinary osmolality was only minimally decreased, fractional excretion of water was unchanged, and Na+ excretion was decreased. CONCLUSIONS: The concentrating defect induced by papillectomy via either sharp excision or laser ablation is due to loss of medullary tissue and is greater than the defect resulting from impaired GFR, which is presumably due to decreased medullary solute delivery and increased flow of water in remaining nephrons. Since the physiologic consequences of papillectomy (formation of less concentrated urine with decreased [Ca++]) have potential clinical applicability, further study of this concept is warranted.

Animals↗
PubMed1993

Improvement of lipid abnormalities associated with proteinuria using fosinopril, an angiotensin-converting enzyme inhibitor.

OBJECTIVE: To examine whether reducing protein excretion in patients with proteinuric renal disease using an angiotensin-converting enzyme inhibitor, fosinopril sodium, would be accompanied by an amelioration of the associated hyperlipidemia. DESIGN: A randomized, placebo-controlled, double-blind study of 12 weeks, followed by 23 weeks of an open-label trial using fosinopril. SETTING: Outpatient renal clinics. PATIENTS: Twenty-six patients (age range, 28 to 70 years) with mild to moderate renal impairment and proteinuria associated with type II diabetes (15 patients) and other causes of nondiabetic renal disease (11 patients) completed the double-blind phase of the study. All patients except one were men. INTERVENTION: Fosinopril, 10 mg initial oral daily dose (randomized trial), and 20 mg orally once a day (open-label phase). MEASUREMENTS: Proteinuria and serum lipids (total cholesterol, high-density lipoprotein, and low-density lipoprotein [LDL] cholesterol, and lipoprotein(a) protein). RESULTS: In a group of 17 patients treated with fosinopril, protein excretion decreased from 5.56 to 4.28 g/d, a reduction of 1.28 (95% CI, -2.49 to -0.08). The reduction was associated with a decrease in serum total cholesterol from 6.39 to 5.82 mmol/L, a decrease of 0.58 mmol/L (CI, -1.01 to -0.15 mmol/L). In a group of nine patients treated with placebo, neither protein excretion (from 5.11 to 4.81 g/d, a change of -0.29 g/d [CI, -1.78 to +1.13 g/d]) nor serum total cholesterol (from 6.08 to 5.77 mmol/L, a change of -0.31 mmol/L [CI, -0.78 to +0.13 mmol/L]) change significantly. At the end of the double-blind phase, plasma lipoprotein(a) protein decreased in the fosinopril-treated group (from 3.94 to 3.33 mg/dL, a reduction of 0.60 mg/dL [CI, -1.02 to -0.18 mg/dL]) but not in the placebo group (from 2.85 to 3.19 mg/dL, a change of +0.34 mg/dL [CI, -0.53 to +1.2 mg/dL]). Dietary protein and fat intake were similar in the two groups throughout the study. In 16 patients who completed an extended open-label phase, fosinopril was associted with a decrease in protein excretion from 4.53 to 3.22 g/d, a reduction of 1.29 g/d (CI, -2.54 to -0.05 g/d), which was associated with a reduction in serum total cholesterol (from 6.37 to 5.54 mmol/L, a decrease of 0.84 mmol/L [CI, -1.59 to -0.08 mmol/L]), LDL cholesterol (from 4.38 to 3.72 mmol/L [a decrease of 0.68 mmol/L [CI, -1.33 to -0.03 mmol/L]), and plasma lipoprotein(a) protein (from 3.58 to 2.81 mg/dL, a reduction of 0.82 mg/dL [CI, -1.58 to -0.05 mg/dL]). CONCLUSION: The angiotensin-converting enzyme inhibitor, fosinopril, can result in a sustained reduction in serum total cholesterol, LDL cholesterol, and plasma lipoprotein(a) protein levels in conjunction with a partial reduction in proteinuria.

Adult↗
PubMed1993

An additional case of pachygyria, joint contractures and facial abnormalities.

Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial abnormalities (Winter et al., 1989; Tsukahara et al., 1990). Another report describes a non-lethal case in which dysmorphic features were not noted (Massa et al., 1988). We now report on what appears to be an additional lethal case. This male infant had a lethal condition with features of large fontanelle, pachygyria with incomplete opercularization, varus contractures of the hands and feet, small palpebral fissures, hypertelorism, a small penis, cryptorchidism, camptodactyly and a sandal gap deformity. These cases appear to represent a new lethal lissencephaly syndrome associated with arthrogryposis and facial dysmorphism, which we propose to call the Winter-Tsukahara syndrome.

Abnormalities, Multiple↗
PubMed1992

Reversibility of long-standing urinary tract obstruction requiring long-term dialysis.

Urinary tract obstruction of longer than 4 to 6 weeks' duration is usually said to be irreversible. Older reports of unilateral obstruction have documented return of kidney function after longer periods of obstruction. The duration of bilateral obstruction compatible with return of life-sustaining renal function is poorly defined. We report herein three cases of long-standing urinary tract obstruction leading to apparent dialysis-dependent end-stage renal disease, where relief of obstruction eventually led to discontinuation of dialysis.

Aged↗
PubMed1991

Transient expression of trisomy 21 and monosomy 7 following cyclosporin A in a patient with aplastic anemia.

We present a patient with severe idiopathic aplastic anemia with no previous chromosomal abnormalities who developed trisomy 21 and monosomy 7 during treatment with intravenous (i.v.) cyclosporine. The abnormal karyotype disappeared when the drug was changed to the oral form. This cytogenetic aberration, previously unreported in association with cyclosporine, may reflect either a direct drug effect or the emergence of a hidden myelodysplastic cell clone subject to preferential survival during immunosuppression.

Administration, Oral↗