Mid-aortic syndrome in two preterm infants.

We report mid-aortic syndrome (MAC) in two preterm infants. Both infants developed malignant hypertension refractory to medical therapy and died early in infancy. Thus far, this account is of the two youngest patients with MAC.

Pseudohypoparathyroidism: a rare cause of bilateral slipped capital femoral epiphysis.

Pseudohypoparathyroidism (PHP) type 1b is a rare childhood disorder characterized by renal resistance to parathyroid hormone (PTH) resulting in biochemical hypoparathyroidism but with skeletal sensitivity to PTH. We describe a patient with PHP type 1b who we believe is one of the youngest reported patients with bilateral slipped capital femoral epiphyses (SCFE).

C1q nephropathy: a variant of focal segmental glomerulosclerosis.

Background: C1q nephropathy is a poorly understood and controversial entity with distinctive immunopathologic features. In order to better define the clinical-pathologic spectrum, we report the largest single-center series.

Methods: Nineteen biopsies with C1q nephropathy were identified from among 8909 native kidney biopsies received from 1994 to 2002 (0.

Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes.

Renal manifestations of concurrent systemic lupus erythematosus and HIV infection.

Autoimmune phenomena are common in human immunodeficiency virus (HIV) infection, yet systemic lupus erythematosus (SLE) and HIV infection rarely are seen concurrently in the same patient. Many of the cases of combined HIV infection and SLE reported in the literature are patients with SLE before HIV infection and who did not undergo renal biopsy at a time when both processes were present. We report the clinical manifestations and renal biopsy findings in four subjects with concurrent HIV infection and SLE and compare them with the seven previously reported cases in the literature.

Idiopathic collapsing focal segmental glomerulosclerosis: a clinicopathologic study.

A review of all native kidney biopsies at our center from 1974 to 1993 identified 43 cases of idiopathic focal segmental glomerulosclerosis (FSGS) with predominantly collapsing features and lacking evidence of HIV-1 infection or intravenous drug use. No case was identified before 1979 and the incidence of this entity has progressively increased over the past two decades. Compared to 50 age-matched controls of idiopathic FSGS with typical perihilar scars, the group of idiopathic collapsing FSGS displayed black racial predominance, a higher serum creatinine and more severe features of nephrotic syndrome at biopsy.

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy.

We report the first case of a mitochondrial DNA (mtDNA) deletion diagnosed by renal biopsy. An eight-year-old girl with megaloblastic anemia and severe growth retardation developed progressive renal insufficiency accompanied by partial Fanconi syndrome. Histologic examination of the renal biopsy disclosed nonspecific chronic tubulointerstitial disease characterized by tubular atrophy and interstitial fibrosis.

Population and family studies of HLA-DR4 by use of oligonucleotide typing.

Using PCR and DR4 group-specific primers and SSO's we have examined DRB1*04 nucleotide polymorphisms in a population of 123 DR4-positive individuals (86 NAC, 27 Hispanics and 10 African Americans) from New York carrying a total of 134 DR4 haplotypes. We found that the distribution of DRB1*04 alleles on DR4 haplotypes differs in these three ethnic groups. In this relatively small population, certain alleles such as DRB1*0406 and 0411 were encountered only in Hispanics, while others such as DRB1*0403, 0408 and 0409 were found only in NAC (North American Caucasians).

Coexistence of AIDS and lupus nephritis: a case report.

We report the first case of membranous lupus nephritis occurring in a child with congenital AIDS. Hypocomplementemia, elevated titers of anti-nuclear antibody and antibody to double-stranded DNA supported the diagnosis of associated systemic lupus erythematosus (SLE). The pathogenetic implications of this coexistence of AIDS and SLE are discussed.

Availability of personal counseling in medical schools.

The deans of student affairs at 114 medical schools were surveyed about the availability of counseling services for medical students. There were 85 respondents (75 percent), all of whom indicated that some counseling services were available at their schools. One-third felt the services were not adequate.