A teenager with X-linked agammaglobulinemia and vitamin B12 deficiency anemia.
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Biomedical subjects
Publications and source records attributed to G M Lackmann.
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A 15-year-old Libyan girl developed typical findings of acute disseminated encephalomyelitis, unveiling characteristic symptoms of Behçet's disease by months. This disease course of neuro-Behçet's disease is quite exceptional in children, and an isolated, high-density MRI lesion of the corpus callosum, like in the present case, has not been described in neuro-Behçet's disease before.
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We present the unique case of a 2-year-old girl with congenital athyreosis who acquired primary measles virus infection at the age of 18 months, coincidentally with an Epstein-Barr virus infection. First neurologic symptoms of subacute sclerosing panencephalitis appeared 5 months later, and the girl died within 6 months after a rapid progressive illness. Factors possibly predisposing to this extraordinary disease course-primary measles virus infection at an early age and lack of evidence for immunodeficiency-are discussed.
Polychlorinated biphenyls (PCB) and hexachlorobenzene (HCB) are ubiquitous compounds that have tumor-promoting properties if applied together with tobacco-specific carcinogens. It was the purpose of the present study to investigate whether parental smoking by itself will increase the prenatal uptake of such organochloric compounds. With the informed consent of the parents, blood samples were taken from 80 full-term neonates before the first oral feeding. Six PCB congeners (PCB 28, 52, 101, 138, 153, and 180) and HCB were analyzed with capillary gas chromatography. Information about parental smoking behavior, the geographic origin of the parents, and their actual and previous working places was recorded. We composed three study groups for statistical analyses: active smoking mothers (n = 12), passive smoking mothers (n = 33), and nonsmoking families (n = 35). Neonates born to active smoking mothers had the highest PCB and HCB concentrations compared with children of passive or nonsmoking mothers. These differences were statistically significant (p < 0.01) in the cases of PCB 138, total PCB, and HCB. Newborns of passive smoking mothers had higher PCB and HCB concentrations than children of nonsmoking families but lower values than those of active smoking mothers. These differences were statistically significant for all compounds with the exception of PCB 180. It is concluded that active and passive maternal smoking increases the neonatal burden with PCB and HCB.
BACKGROUND: Cigarette smoking during pregnancy can result in fetal exposure to carcinogens that are transferred from the mother via the placenta, but little information is available on fetal uptake of such compounds. We analyzed samples of the first urine from newborns whose mothers did or did not smoke cigarettes for the presence of metabolites of the potent tobacco-specific transplacental carcinogen 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK). METHODS: The urine was collected and analyzed for two metabolites of NNK, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL) and its glucuronide (NNAL-Gluc). Gas chromatography and nitrosamine-selective detection, with confirmation by mass spectrometry, were used in the analyses, which were performed without knowledge of the origin of the urine samples. RESULTS: NNAL-Gluc was detected in 22 (71%) of 31 urine samples from newborns of mothers who smoked; NNAL was detected in four of these 31 urine samples. Neither compound was detected in the 17 urine samples from newborns of mothers who did not smoke. The arithmetic mean level of NNAL plus NNAL-Gluc in the 27 newborns of smokers for which both analytes were quantified was 0.14 (95% confidence interval [CI] = 0.083-0.200) pmol/mL. The levels of NNAL plus NNAL-Gluc in the urine from these babies were statistically significantly higher than those in the urine from newborns of nonsmoking mothers (geometric means = 0.062 [95% CI = 0.035-0.110] and 0.010 [considered as not detected; no confidence interval], respectively; two-sided P<.001). NNAL plus NNAL-Gluc levels in the 18 positive urine samples in which both analytes were quantified ranged from 0.045 to 0.400 pmol/mL, with an arithmetic mean level of 0.20 (95% CI = 0.14-0.26) pmol/mL, about 5%-10% of the levels of these compounds detected in the urine from adult smokers. CONCLUSIONS: Two metabolites of the tobacco-specific transplacental carcinogen NNK can be detected in the urine from newborns of mothers who smoked cigarettes during pregnancy.
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Polychlorinated biphenyls (PCBs) and hexachlorobenzene (HCB) are ubiquitous carcinogenic and teratogenic compounds that are transplacentally transferred from mother to fetus during pregnancy. It was the aim of the present study to evaluate the possible influence of maternal age and duration of pregnancy on the neonatal burden with these substances. Blood samples were taken from 80 full-term German neonates within the first 12 h of life, before the first oral feeding. The serum concentrations of six PCB congeners (28, 52, 101, 138, 153, and 180) and HCB were determined with capillary gas chromatography with electron capture detection. The concentrations of the lower chlorinated PCB congeners (28, 52, and 101) were below the detection limit. PCB 153 showed the highest serum concentration (median 0.42 microg/l), followed by PCB 138 (0. 34 microg/l) and PCB 180 (0.17 microg/l). Total PCB concentration was 0.96 microg/l, HCB concentration 0.61 microg/l. All detectable PCB congeners and the total PCB concentration correlated significantly with the gestational age of the newborns (r = 0.2639; p < 0.01), with 50-140% higher serum levels in children born at 42 weeks of gestation as compared with neonates born in the 38th week. HCB concentration correlated with maternal age (r = 0.249; p < 0.01), with 2.7-fold higher serum levels in offspring of 40-year-old as compared with 20-year-old women. It is concluded that the neonatal burden with organochlorine compounds depends on maternal age and duration of pregnancy, thereby reflecting the increase in body pollution with these substances during human life as well as a continuous transplacental transfer from mother to fetus during pregnancy.
Angiofibromas are usually characterized by typical location with involvement of the posterior nasal cavity and nasopharynx. They are most commonly found in adolescent males. Despite these facts, a case of an angiofibroma presented in a 15-month-old boy at an atypical site anterior and medial to the lacrimal sac. The tumor was resected via an endonasal, micro-endoscopic approach avoiding an external incision.
The diagnosis and treatment of fetal and neonatal diseases requires knowledge of gestational age-dependent reference ranges for most laboratory values. It was the aim of the present study to establish reference values for serum iron, transferrin, ferritin and ceruloplasmin concentrations in premature neonates, thereby paying attention to the possible changes with gestational age. Blood samples were taken from 100 premature neonates within the first hour of life. Total serum iron, transferrin, ferritin and ceruloplasmin concentrations were determined, transferrin saturation was calculated. Newborns who developed a presumed oxygen radical disease of prematurity were excluded from the study (n = 37), because previous investigations could demonstrate significantly lower serum transferrin and ceruloplasmin concentrations in prematures suffering one of these disorders. Related to gestational age, only serum transferrin concentration showed a statistically significant increase and correlation (r = 0.47; p < 0.0001) with rising age. Although statistically not significant, even serum ferritin concentration increased with rising age of the neonates. None of the investigated laboratory values correlated with birth weight. Only ferritin showed a slight, but statistically not significant increase with higher body mass. We conclude that gestational age-dependent changes of serum transferrin levels must be considered in the judgement of fetal and neonatal diseases, whereas total serum iron and ceruloplasmin concentrations remain rather constant at least during the last weeks of gestation.
Angiofibromas are usually characterized by typical location with involvement of the posterior nasal cavity and nasopharynx. They are most commonly found in adolescent males. Despite these facts, a case of an angiofibroma presented in a 15-month-old boy at an atypical site anterior and medial to the lacrimal sac. The tumor was resected via an endonasal, micro-endoscopic approach avoiding an external incision.
The authors review their experience in detecting occult traumatic dural lesions. In a retrospective study covering the period from January 1, 1984 to December 31, 1996, 23 patients were evaluated for occult traumatic dural lesions. Clinical presentation, diagnostic work-up, and management of the dural lesions were analyzed.The clinical presentations of the previously undetected dural lesions of the anterior skull base were meningitis in eight cases, cerebrospinal fluid (CSF) rhinorrhea in eight cases, both meningitis and CSF rhinorrhea in five cases, and a pulsating swelling in the region of the right upper eyelid in one case. In another case a fracture of the posterior frontal wall was detected incidentally on the preoperative CT scan performed prior to surgery for chronic sinusitis. One patient had a CSF fistula of the lateral skull base in addition to the frontobasal fistula. The interval between trauma and diagnosis varied from 1 to 48 years. Dural lesions were localized by high-resolution CT, fluorescein nasal endoscopy, CT cisternography, and MRI. Intraoperative exposure of the dural lesions and duraplasty were possible in all cases. During the first attempt successful repair of the dural lesions was accomplished in 22 (95.7%) of the 23 patiants. Two interventions were necessary to close a CSF leak of the cribriform plate.Modern clinical and radiologic diagnostic methods should be employed to search for an occult dural lesion in patients with recurrent meningitis, meningitis caused by upper airway pathogens, or CSF rhinorrhea. The patient will remain at risk of potentially fatal meningitis until the lesion is appropriately repaired by duraplasty.
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Oxygen radical injury may be a common pathogenic mechanism in several neonatal diseases. The term "oxygen radical disease of prematurity" has been proposed in the face of the greater incidence of intracerebral hemorrhage, bronchopulmonary dysplasia, and retinopathy in premature neonates. To test the hypothesis that overload with ionic iron due to decreased concentrations of iron-oxidizing and iron-binding proteins induces free radical damage in premature asphyxiated newborns suffering periventricular-intraventricular hemorrhage (PIVH), blood plasma of newborns with PIVH (n = 7) was compared with that of controls (n = 10) within the first 12 h of life. We found reduced transferrin (2.05 vs. 2.24 g/l; p < 0.05) and ceruloplasmin (89.9 vs. 126.3 mg/l; p < 0.01) levels and an increased transferrin saturation (54.2 vs. 38.4%; p < 0.05) in those newborns who later developed PIVH. These findings support the theory that iron-catalyzed lipid peroxidation of the brain during reoxygenation after perinatal asphyxia may be involved in the pathogenesis of PIVH.
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Elevated serum aspartate aminotransferase (ASAT), lactate dehydrogenase (LDH), and hydroxybutyrate dehydrogenase (HBDH) activities are highly predictive for the development of hypoxia-related neurologic disorders in asphyxiated newborns. Little is known about the influence of the idiopathic respiratory distress syndrome (IRDS) on the serum profile of these enzymes. In a prospective study we measured ASAT, LDH, and HBDH activities in asphyxiated newborns with (n = 12) and without (n = 12) IRDS as well as non-asphyxiated newborns with IRDS (n = 16). Blood samples were taken serially at five fixed times: 0 (cord), 12, 24, 72, and 144 hours postpartum. Whereas both study groups of asphyxiated newborns showed significantly elevated enzyme activities as compared with the non-asphyxiated controls, the fundamental influence of perinatal hypoxic-ischemic events on neonatal serum enzyme profiles and activities of all three enzymes was not significantly altered by the development of IRDS. Therefore, the predictive value of these enzymes for the development of neurologic disorders in asphyxiated newborns is not adversely affected by the development of an immediately and effectively treated IRDS. It is concluded that elevated ASAT, LDH, and HBDH activities can be used as predictors for neurologic disorders in asphyxiated newborns even in the presence of IRDS.