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Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of holoprosencephaly, diagnosed prenatally by ultrasound examination at 31 weeks of pregnancy in a 31-year-old primigravida woman. This case is characterized by holoprosencephaly, cleft palate, cleft lip, left renal aplasia and right renal hypertrophy. The chromosomal study showed a deletion of the long arm of chromosome 7, 46, XX, del(7)(q32), We report with a terminal deletion of chromosome 7q associated with atypical clinical picture and holoprosencephaly.
Adult ; Arm ; Chromosome Aberrations* ; Chromosomes, Human, Pair 7 ; Cleft Lip ; Cleft Palate ; Female ; Holoprosencephaly ; Humans ; Hypertrophy ; Multicystic Dysplastic Kidney* ; Pregnancy ; Prosencephalon ; Ultrasonography

Infantile hypertrophic pyloric stenosis (IHPS) is the most common condition requiring abdominal surgery in early infancy, and is caused by hypertrophied pyloric muscle. The development of successful surgical treatment in the early 1900s by Fredet and Ramstedt made it possible for infants worldwide to survive. Modern pediatric anesthetic techniques have virtually eliminated mortality from surgical management. Atropine sulfate is a cholinergic blocking agent with potent antimuscarinic activity that decreases peristaltic contractions by relaxing smooth muscles. We treated two cases of IHPS with incomplete pyloromyotomy in 3-month-old and 5-month-old male infants by administering atropine sulfate intravenously. They were free from vomiting after 5 days of intravenous atropine sulfate treatment. In these rare cases of persistent vomiting or refractory emesis following incomplete pyloromyotomy, there may be a role for atropine sulfate.
Atropine* ; Constriction, Pathologic* ; Humans ; Infant ; Male ; Mortality ; Muscle, Smooth ; Pyloric Stenosis, Hypertrophic ; Vomiting*

The insulin-like growth factor (IGF)s are believed to one of several growth factors that play an adjunctive role in ovarian follicular development. These factors circulate bound to a family of IGF-binding protein (IGFBP)s. It is known that circulating IGFBPs are involved in the transport of IGFs to tissues and modulate IGFs actions at local tissue. The purposes of this study were to evaluate changes in serum IGFBPs profiles during normal ovulatory menstrual cylce and to compare serum IGFBPs profiles in periovulatory phase of between normal ovulatory menstrual cylce and controlled hyperstimulated cycle. Fasting blood samples were obtained from 15 normal healthy women throughout normal ovulatory menstural cycle and on the day of aspiration of oocyte from 10 patients undergoing ovarian hyperstimuation for in vitro fertilization-embryo transfer. Serum IGFBP-1-IGFBP-4 were measured by western ligand blot and immunoprecipitation. Serum 17beta-estradiol was determined by radioimmunoassay. Type and molecular weight of serum IGFBP did not changed during normal ovulatory menstural cycle. No significant variation in the relative proportion and level of each IGFBP was found throughout normal ovulatory menstural cyle. Also, the relative proportion and level of each IGFBP did not correlated with serum 17beta-estradiol level. There was no significant difference in the relative proportion and level of each serum IGFBP between on the day of ovulation in normal ovulatory menstrual cylce and on the day of aspiration of oocyte in controlled hyperstimulated cycle. Our data indicate that IGFBPs have regulatory functions in ovary through an paracrine and autocrine rather than endocrine mechanism during normal ovulatory menstural cycle.
Fasting ; Female ; Humans ; Immunoprecipitation ; Insulin-Like Growth Factor Binding Proteins* ; Intercellular Signaling Peptides and Proteins ; Menstrual Cycle* ; Molecular Weight ; Oocytes ; Ovary ; Ovulation ; Radioimmunoassay

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Bronchiectasis*

No abstract available.