ABSTRACT
Holoprosencephaly is the most common malformation of the forebrain and typically results in severe neurocognitive impairment with accompanying midline facial anomalies. Holoprosencephaly is heterogeneous and may be caused by chromosome aberrations or environmental factors, occur in the context of a syndrome or be due to heterozygous mutations in over 10 identified genes. The presence of these mutations may result in an extremely wide spectrum of severity, ranging from brain malformations incompatible with life to individuals with normal brain findings and subtle midline facial differences. Typically, clinicians regard intellectual disability as a sign that a parent or relative of a severely affected patient may be a mildly affected mutation 'carrier' with what is termed microform holoprosencephaly. Here we present 5 patients with clear phenotypic signs of microform holoprosencephaly, all of whom have evidence of above-average intellectual function. In 4 of these 5 individuals, the molecular cause of holoprosencephaly has been identified and includes mutations affecting SHH, SIX3, GLI2, and FGF8. This report expands the phenotypic spectrum of holoprosencephaly and is important in the counseling of patient and affected families.
ABSTRACT
OBJECTIVES: The karyotype 46,X,isodicentric Y has rarely been reported in the context of prenatal diagnosis. The literature is replete with descriptions of individuals with 46,X,isodicentric Y/45,X mosaicism, presenting with a spectrum of phenotypes. The postnatal phenotype is believed to depend on the extent of mosaicism in the gonads or other affected tissues. The purpose of this article is to delineate the natural history of this chromosomal abnormality when identified in the context of prenatal diagnosis. METHODS: We identified a 45,X/46,X,idicY karyotype in the structurally normal male fetus of a woman presenting with an abnormal triple screen. Four other prenatally ascertained cases were found in our files as well as ten in the medical literature. RESULTS: Of the 15 cases presented here, 11 (73%) were reported as phenotypically normal males, 1 was found to have an epididymal cyst, and 1 had normal male genitalia, but was also found to have a cardiovascular defect. One out of 15 (7%) was found to have female genitalia and was therefore confirmed to have Turner syndrome. In one case, the outcome was not reported. CONCLUSION: An individual diagnosed prenatally with idic(Y) may in many cases be a normal male, similar to the outcome for prenatally diagnosed 45,X/46,XY.
Subject(s)
Chromosomes, Human, X , Chromosomes, Human, Y , Fetal Diseases/diagnosis , Prenatal Diagnosis , Sex Chromosome Aberrations/embryology , Female , Fetal Diseases/genetics , Fetus , Follow-Up Studies , Humans , Karyotyping , Male , Phenotype , Pregnancy , Retrospective StudiesABSTRACT
The contact Nd:YAG laser is an effective tool for head and neck soft tissue surgery for its precision, predictability, and touch technique. Understanding of its biophysics, precaution and application expedites operation, enhances surgical results and shortens hospitalization.
Subject(s)
Carcinoma, Squamous Cell/surgery , Facial Neoplasms/surgery , Laser Therapy/instrumentation , Neoplasms, Multiple Primary/surgery , Parotid Neoplasms/surgery , Soft Tissue Neoplasms/surgery , Aged , Humans , Male , Surgical Flaps/methods , Wound Healing/physiologySubject(s)
Bronchoscopes , Esophageal Stenosis/surgery , Gastroscopes , Aged , Fiber Optic Technology , Humans , Male , MethodsABSTRACT
We designed a prospective study to test the hypothesis that the stomach may be a bacterial reservoir in some patients and function as a potential source of aspiration-induced bacterial pneumonia. Quantitative cultures of fasting gastric contents were obtained in 100 consecutive patients having fiberoptic endoscopy for evaluation of gastrointestinal disease. Culture results were correlated with gastric pH and gastrointestinal pathology. Patients with gastric ulcer disease had a significantly higher incidence of bacterial growth than those with duodenal ulcer. Patients who had had gastrectomy were more likely than any others to have gram-negative bacilli in their stomach. A somewhat high frequency of other common pneumonic pathogens in gastric contents was also noted. The significance of these findings in the production of pneumonia in the elderly is discussed.
Subject(s)
Gastrointestinal Diseases/microbiology , Stomach/microbiology , Bacteria/growth & development , Bacteria/isolation & purification , Duodenal Ulcer/microbiology , Gastrectomy , Gastrointestinal Contents , Gram-Negative Aerobic Bacteria/isolation & purification , Humans , Hydrogen-Ion Concentration , Middle Aged , Pneumonia, Aspiration/microbiology , Prospective Studies , Stomach Ulcer/microbiologySubject(s)
Burns/etiology , Esophagoscopes , Esophagus/injuries , Esophagoscopy/adverse effects , HumansABSTRACT
The practical consequences of deinstitutionalization upon the families of the mentally ill are discussed. Not only is adequate care frequently lacking for the ill family member, but the families of the mentally ill often find themselves alone in their caretaking roles. The growing importance of consumer-advocacy groups may be a harbinger of increasing cooperation among all those concerned with the impact of schizophrenia on both affected individuals and their families.