Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Technical advances continue to expand the number of genetic disorders that can be diagnosed in utero. The current methods for prenatal diagnosis are as follows: Amniocentesis, fetoscopy, fetal blood sampling, biopsy of fetal skin, and chorionic villus sampling (CVS). The method for growing fetal cells obtained by amniocentesis in short term culture and karyotyping has opened a new area to chromosomal anomalies. By using cultured amniotic fluid cells in larger numbers, it is also possible to diagnose many metabolic disorders. Fetoscopy has been developed which permits the perinatologist to enter the uterus and obtain tissue sample or to actually view the fetus. However, it is very difficult to visualize the fetus directly through fetoscope. Only specific parts of the fetus can be readily identified, but a total examination of surface anatomy is rarely possible. Now ultrasonography with improved resolution can clearly define many major anatomical abnormalities without apparent risk. And also, fetal blood sampling and skin biopsy have been successfully performed under ultrasound guidance rather than under direct fetoscopic visualization. Recently, the advent of fetal blood sampling has made it possible to diagnose genetic disorders which have hitherto been impossible to recognize in the fetus. The main applications are for the prenatal diagnosis of the fetal infection, coagulopathies, hemoglobinopathies, and muscular dystrophies. Several severe genodermatoses result in early death or are associated with significant morbidity. Some of these disorders can be diagnosed in utero with skin biopsies. Harlequin Ichthyosis is a typical case. A positive prenatal diagnosis of Harlequin Ichthyosis was reported.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Prenatal diagnosis of congenital anomalies--present status and future problems]. 307 24

The criteria for assessing female sterilization techniques are safety, effectiveness, and economy. Comparison is made between interval minilaparotomy and laparoscopy. The equipment necessary and surgical techniques followed for both these procedures is described. The operative equipment necessary for laparoscopy is extensive. The mini-laparotomy requires only some type of instrument for elevating the uterus. There are no distinct contraindications for use of the mini-laparotomy while there are 3 clear and 2 relative contraindications against laparoscopy. These are: cardio-respiratory decompensation, sickle hemoglobinopathy, hernias, peritonitis, and intestinal obstruction. The complications which are unique to laparoscopy derive from the necessity to create the pneumoperitoneum in that procedure. Comparison of complications experienced and subsequent pregnancies with both procedures is made though a literature search; the comparison involves several laparoscopic studies and 1 large mini-laparotomy study. Results of the comparison are tabulated.
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PMID:Interval mini-laparotomy: an alternative to laparoscopic sterilization? 644 8

Anemia, mental status changes, and fatal respiratory failure complicated a febrile illness in a previously healthy 14-year-old black female. At autopsy, widespread fat emboli and bone marrow necrosis were found. Hemoglobin electrophoresis on an antemortem, pretransfusion specimen revealed hemoglobin S/beta+ thalassemia. Acute parvovirus B19 (PV B19) infection was suspected. Postmortem serum and a variety of paraffin-embedded tissues were assayed for PV B19 DNA using the polymerase chain reaction (PCR). The expected PCR product was identified in the serum specimen and in paraffin-embedded sections of bone marrow, kidney, spleen, parathyroid, thyroid, adrenal, and gastrointestinal tract: lung, liver, ovary, fallopian tube, uterus, brain, heart, and pancreas were negative. PV B19 infection is highly contagious and may be rapidly fatal in children with hemoglobinopathies by several mechanisms, including fat embolism. Therefore, there exists the risk of multiple deaths within a family. The acute infection may be easily and expeditiously diagnosed using serum or a variety of paraffin-embedded tissues.
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PMID:Fatal fat embolism syndrome in a child with undiagnosed hemoglobin S/beta+ thalassemia: a complication of acute parvovirus B19 infection. 896 32

We describe the occurrence of hypothyroidism and hypogonadotropic hypogonadism in an XY pseudohermaphrodite subject affected by beta-thalassemia. The patient, reared as female, diagnosed at 14 months of age as having a beta 39/Lepore hemoglobinopathy, treated with multiple transfusion therapy, was referred at age of 15 years because of delayed puberty. Complete endocrine evaluation showed low levels, both basal and after combined LHRH-TRH and hCG stimuli, of FSH, LH, TSH, estradiol (E2), testosterone (T), progesterone (P), androstenedione (A), and FT4 levels, and normal PRL, cortisol, 17OHP and ACTH levels. Imaging studies (ultrasound, magnetic resonance, radioisotope scanning and gonadal vessels phlebography) did not show internal genitalia and gonads. Karyotype resulted 46,XY. PCR amplification of the SRY gene confirmed the presence of the Y chromosome. Female genitalia without uterus in a subject with Y chromosome SRY gene, and no detectable testes indicate a condition of male pseudohermaphroditism associated with testicular regression. Low gonadotropin and sex steroid levels are suggestive of combined acquired hypothalamic-pituitary and gonadal impairment, due to iron deposition in both organs. We cannot exclude congenital failure of testosterone synthesis and action in this case, because lack of gonads is an unusual finding in thalassemic hypogonadic subjects.
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PMID:Pituitary deficiency and lack of gonads in an XY pseudohermaphrodite with beta 39/lepore haemoglobinopathy. 1009 Nov 84

The objectives of this study are to determine the trend of maternal mortality at the University of Ilorin Teaching Hospital, to identify the causes of death, and to identify ways of minimizing the frequency of preventable deaths. Analysis of 75 cases of maternal deaths seen over 3 1/2 years (January 1983-June 1986) was conducted. During this period, there were 26,905 births, giving a maternal mortality rate of 279/100,000. 84% of the deaths were due to direct causes while the remaining 16% were classified under the indirect and pregnancy related categories. The main direct causes of death include hemorrhage (35.6%), septicemia (24.7%), and anemia (13.7%). Other direct obstetric causes include eclampsia, anesthetic death, hemoglobinopathy, and ruptured uterus. The most important indirect causes were native drug intoxication (6.8%), fulminant hepatitis (5.5%), and pulmonary embolism (2.7%). The maternal mortality was highest in the age ranges 25-29 years (31.5%). Median age and parity were 27 years and 4.5 respectively. While the maternal mortality rate of 2.8/1000 is an improvement over the previous years' (1972-1982) record of 4.3/1000, it is still unacceptable. The majority of these deaths could have been prevented if delivery had occurred in a well equipped hospital where blood transfusion and surgical facilities are available, if sterile manipulations for pregnant women had been employed, if appropriate antenatal care was available, and if specialist anesthetist services were accessible. Recommendations to reduce the maternal mortality rate include improved education and training of traditional birth attendants, improved immunization of women against tetanus, and increased community involvement through education. Furthermore, policy makers must set new priorities such as encouraging greater investment in improving clinics and hospital facilities, improving access to contraception, increasing awareness of the magnitude of the problem and encouraging community leadership and action.
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PMID:Maternal mortality at Ilorin, Nigeria. 1217 82

Tuberculosis is a public health problem, especially in the developing countries. Bacillary pulmonary tuberculosis is the most common form of tuberculosis while genital tuberculosis is rare and underdiagnosed. We here report a case of endometrial tuberculosis. The study involved a 72-year old female patient with SC hemoglobinopathy consulting her gynecologist because of chronic leukorrhea. Cytobacteriologic assessment of vaginal swabs showed Streptococcus agalactatiae. Despite suitable antibiotic therapy, the evolution was marked by the persistence of leukorrhea. Pelvic ultrasonography objectified thickened endometrium, appearing as hyperechoic at the base of the uterus. This was suggestive of endometrial cancer. Anatomo-pathological examination of endometrial curettage samples showed granulomatous endometritis suggesting follicular tuberculosis. Outcome was favorable under antituberculosis treatment. In TB endemic areas, genital tuberculosis is not exceptional and should be suspected in patients with chronic leukorrhea despite suitable treatment.
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PMID:[Rare location of tuberculosis: endometrial tuberculosis]. 3144 8