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Biomedical subjects

R H Ruvalcaba

Publications and source records attributed to R H Ruvalcaba.

At least 19 recordsLinked to original sources
PubMed1997

Familial spinocerebellar ataxia and empty sella turcica.

Pituitary anomaly associated with familial spinocerebellar ataxia (FSCA) is a rare occurrence. This is a report of a child with FSCA who had an empty sella turcica and growth hormone deficiency. Growth hormone therapy accelerated growth velocity and improved muscular strength. Endocrinopathy associated with FSCA is reviewed.

Atrophy↗
PubMed1995

Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.

We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome.

Abnormalities, Multiple↗
PubMed1992

Case report: familial growth hormone deficiency associated with Bartter's syndrome.

Two children, a brother and a sister with growth retardation, and their short adult female sibling presented with isolated growth hormone deficiency. In addition, they had hypokalemic alkalosis and overactive renin-angiotensin-aldosterone system. The mother of these three individuals has short stature plus growth hormone deficiency. Other members of the pedigree have average stature. All the patients are normotensive. In addition to potassium and magnesium administration, the children were treated with growth hormone for more than 12 months. The growth velocity more than doubled during the therapy period. The association between Bartter's syndrome and isolated familial growth hormone deficiency is of interest because of the combination of these two rare conditions. To our knowledge, there are no published growth hormone studies on Bartter's syndrome, which is also characterized by short stature.

Adult↗
PubMed1992

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible deletions. For two of these patients, microdeletions could be detected by using probe pHU16 (DXS26). One of these deletions also encompasses locus DXS169, indicating that it extends farther toward the centromere. The presence of normal hybridization patterns in the DNA of 25 unrelated control males suggests that these deletions are the primary cause of progressive mixed deafness in these patients. If so, their molecular characterization may pave the way for the identification and isolation of the corresponding gene.

Chromosome Deletion↗
PubMed1988

Ruvalcaba-Myhre-Smith syndrome.

In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome.

Child, Preschool↗
PubMed1986

Kabuki make-up syndrome in a Caucasian.

A 20-year-old Caucasian female with the Kabuki make-up syndrome had adolescent onset cataracts and delayed sexual maturation with evidence of primary ovarian dysfunction. These features have not been described in other patients with this disorder, all of whom have been younger. This patient also had cystic fibrosis, which may be a fortuitous association.

Adult↗
PubMed1984

A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome.

Four patients with the Ruvalcaba-Myhre-Smith syndrome (primary macrocephaly with associated anomalies including pigmented macules on the penis in affected males, hamartomatous intestinal polyps, and lipomas) had evidence of delayed psychomotor development and/or hypotonia in childhood. Electromyography in 3 patients showed evidence of a myopathic process. Muscle biopsy in all four demonstrated a lipid storage myopathy with increased numbers of neutral lipid droplets--predominatly in type 1 fibers. The type 2 fibers were consistently smaller than expected. Electron microscopy was unremarkable except for evidence of lipid accumulation. Muscle carnitine and carnitine palmityl transferase levels were normal in one patient. This appears to be a previously unreported type of lipid storage myopathy characteristic of the Ruvalcaba-Myhre-Smith syndrome, a probable autosomal dominant trait.

Adult↗
PubMed1982

Use of anabolic agents in treatment of short children.

As indicated in previous sections of this review, all anabolic steroids produce acceleration in linear growth in children with short stature. However, the rapid masculinization induced by testosterone and other anabolic steroids and especially the disproportionately rapid epiphyseal maturation produced by these compounds have brought this form of therapy for short stature into disrepute. Not all investigators concur that testosterone therapy inevitably results in reduction of eventual adult height attainment and, depending on the age of onset of therapy and the dose employed, it has been reported that adult height attainment equals or exceeds the adult height prediction at the time of instituting therapy. Attempts to synthesize anabolic steroids with improved anabolic/androgenic ratios have been continuing for many years. Among currently available anabolic steroids it appears that the best separation of anabolic and androgenic properties has been attained with oxandrolone. This is reflected by the fact that most recent studies of growth promotion by anabolic steroids have employed this compound. From the results of these studies, it appears that doses of this drug capable of significant stimulation of growth generally do not cause excessive masculinization or unacceptably rapid acceleration of epiphyseal maturation and do not compromise eventual height attainment. Certain studies mentioned above suggest that it might be possible to devise therapeutic programmes employing other anabolic steroids which would produce equally satisfactory results. However, because of the more favourable anabolic/androgenic ratio of oxandrolone it seems likely that the increasing trend toward use of this drug for growth promotion will continue.

Body Height↗
PubMed1982

Plasma somatomedin-C as a screening test for growth hormone deficiency in children and adolescents.

Random plasma somatomedin-C (SM-C) levels were measured in 143 children and adolescents with growth at or below the 5th percentile. 124 patients had short stature due to constitutional delay or genetic predisposition and 19 patients were growth hormone deficient (GHD). When analyzed according to bone age, mean somatomedin-C levels rose gradually with increasing bone age in non-GHD patients, while there was no change with increasing bone age in GHD patients. All patients with SM-C levels less than 0.05 U/ml underwent growth hormone testing to rule out GHD. This criterion resulted in 52% accuracy in identifying non-GHD patients and 100% accuracy in identifying GHD patients. Comparison of the SM-C test with the exercise GH screening test demonstrated the advantage of greater convenience for the SM-C test, and comparable cost effectiveness despite a lower specificity associated with the SM-C test. SM-C levels were not predictive of peak growth hormone response nor could they be used to differentiate constitutional delay of growth and maturation from genetic short stature.

Adolescent↗