Types and prevalence of adverse skin reactions associated with prolonged N95 and simple mask usage during the COVID-19 pandemic.

BACKGROUND: As the coronavirus 2019 (COVID-19) pandemic persists on a global level, the chronic daily use of face masks within the healthcare system remains an important component of disease prevention and transmission. Increased use of personal protective equipment (PPE) may result in increased rates of occupational dermatoses and adverse skin reactions. OBJECTIVES: The purpose of this study is to explore how chronic, prolonged use of N95 masks or simple surgical masks affects the prevalence of adverse skin reactions in Healthcare Workers (HCWs). METHODS: An optional, quantitative, web-based survey was administered to patient-facing HCWs across six network hospitals in a large metropolitan city. Data were analysed to assess the types and sites of adverse skin reactions, and to evaluate correlations between single mask use duration and adverse skin reactions. RESULTS: A total of 230 HCWs responded with 192 endorsing occupational dermatoses. Among the healthcare responders, (n = 192, 83.5%) experienced at least one adverse skin reaction. The most common occupational adverse skin reactions were acne (n = 133, 57.8%), dryness (n = 108, 47.0%) and redness (n = 105, 45.7%). Anatomical areas most commonly affected included the nasal bridge (n = 92, 40.0%), cheeks (n = 92, 40.0%) and chin (n = 91, 39.6%). Acne (P = 0.002), dryness/scaling (P = 0.002), increased pore size (0.003), itch (P = 0.003), nasal bridge scarring (P < 0.001), redness (P < 0.001), frictional erosions (P = 0.001) and ulcerations (P = 0.002) showed a positive correlation to duration of mask use. CONCLUSIONS: Prolonged, daily usage of PPE is associated with numerous adverse skin reactions among HCWs with acne being the most commonly seen adverse reaction. Many adverse reactions are associated with prolonged use of single mask.

Gastrointestinal microbiome, what is behind faecal microbiota transplantation?

The intestinal microbiota is made up of billions of microorganisms that coexist in an organised ecosystem, where strict and facultative anaerobic bacteria predominate. The alteration or imbalance of these microorganisms, known as dysbiosis, can be associated with both gastrointestinal and extraintestinal diseases. Based on a review of the literature, the intestinal microbiota is described in its state of health, the changes associated with some gastrointestinal diseases and the potential role that faecal microbiota transplantation has in the reestablishment of an altered ecosystem. Undoubtedly, the information revealed makes us reflect on the indication of faecal microbiota transplantation in various pathologies of intestinal origin. However, to ensure the efficacy and safety of this therapy, more studies are needed to obtain more evidence.

Sex-dependent associations of maternal androgen levels with offspring BMI and weight trajectory from birth to early childhood.

CONTEXT: In preclinical studies, high androgen levels during pregnancy are associated with low birth weight and rapid postnatal weight gain in the offspring. However, human data linking prenatal androgens with birth weight and early life weight gain in the offspring are scarce. DESIGN: We evaluated 516 mother-child pairs enrolled in the New England birth cohorts of the Collaborative Perinatal Project (1959-1966). We assayed androgen bioactivity in maternal sera during third-trimester using a receptor-mediated luciferase expression bioassay. Age and sex-specific BMI Z-scores (BMIz), defined using established standards, were assessed at birth, 4 months, 1 year, 4 years, and 7 years. We used linear mixed models to evaluate the relation of maternal androgens with childhood BMIz overall and by sex. We examined the association of maternal androgens with fetal growth restriction. The association of weight trajectories with maternal androgens was examined using multinomial logistic regression. RESULTS: Higher maternal androgen levels associated with lower BMIz at birth (ß = - 0.39, 95% CI: - 0.73, - 0.06); this relation was sex-dependent, such that maternal androgens significantly associated with BMIz at birth in girls alone (ß = - 0.72, 95% CI: - 1.40, - 0.04). The relation of maternal androgens with fetal growth restriction revealed dose threshold effects that differed by sex. There was no significant association between maternal androgens and weight trajectory overall. However, we found a significant sex interaction (p = 0.01); higher maternal androgen levels associated with accelerated catch-up growth in boys (aOR = 2.14, 95% CI: 1.14, 4.03). CONCLUSION: Our findings provide evidence that maternal androgens may have differential effects on the programming of intrauterine growth and postnatal weight gain depending on fetal sex.

Associationbetween hyperoxia and mortality in severely burned patients.

INTRODUCTION: The use of oxygen is a key component of acute burn resuscitation, particularly when there is concern for carbon monoxide toxicity or inhalation injury. Prior studies of critically-ill patients have shown an association between early hyperoxia and increased mortality. There are no studies to date evaluating outcomes related to excessive oxygen administration in burn patients. METHODS: We conducted a retrospective analysis of 219 severely burned patients to quantify the average amount of oxygen given during initial resuscitation, the level of carbon monoxide exposure, and to determine if early exposure to supratherapeutic oxygen was associated with increased hospital mortality or ventilator-associated pneumonia (VAP). The models were adjusted for inhalation injury and total body surface area (TBSA) burned. RESULTS: Early hyperoxia in severely burn patients is common and possibly associated with increased overall mortality, although the results were inconclusive and after adjusting for burn-specific scoring systems, we found a negative correlation between hyperoxia and mortality. Confirmed carbon monoxide poisoning was relatively uncommon, but also associated with increased mortality. Patients with elevated carboxyhemoglobin did not receive more oxygen compared to others within the cohort. CONCLUSIONS: Burn patients are exposed to higher concentrations of pure oxygen compared to other critically-ill patients, presumably for empiric treatment of carbon monoxide poisoning. Our data showed a liberal use of oxygen therapy across all patients. Considering the potentially negative effects of hyperoxia, this study exposes either a gap in clinical research or need for clearer indications.

The effectiveness of germicidal wipes and ultraviolet irradiation in reducing bacterial loads on electronic tablet devices used to obtain patient information in orthopaedic clinics: evaluation of tablet cleaning methods.

BACKGROUND: Electronic tablet devices are commonly used in outpatient clinics to obtain patient information for both clinical and research purposes. These devices are often colonized with bacteria; there are many cleaning methods to reduce this bacterial load. AIM: The primary purpose of this study was to evaluate whether regular cleaning with either germicidal wipes or ultraviolet (UV) irradiation leads to lower bacterial levels compared with irregular cleaning. METHODS: A randomized blinded trial was conducted of tablet cleaning strategies between each patient encounter in orthopaedic clinics. The cleaning method was randomized to either germicidal wipes, UV irradiation, or cleaning only when the tablet was visibly soiled. Research assistants (blinded to the treatment) obtained bacterial cultures from the tablets at the beginning and end of each clinic day. FINDINGS: Using germicidal wipes between each patient encounter vs no routine cleaning resulted in a marked decrease in the amount of bacterial contamination (risk ratio (RR) = 0.17 (0.04-0.67)). Similarly, using UV irradiation between each patient encounter led to significantly lower bacterial contamination rates (RR = 0.29 (95% confidence interval (CI) = 0.09-0.95)) compared with no routine cleaning. The majority of bacteria identified were normal skin flora. No meticillin-resistant Staphylococcus aureus was identified and only sparse colonies of meticillin-sensitive S. aureus. CONCLUSION: Electronic tablets used in orthopaedic trauma clinics are colonized with bacteria if no routine cleaning is performed. Routine use of either UV irradiation or germicidal wipes significantly decreases this bacterial burden. Providers should implement routine cleaning of tablets between each patient encounter to minimize exposure to potential pathogens.

Deep Transfer Learning and Radiomics Feature Prediction of Survival of Patients with High-Grade Gliomas.

BACKGROUND AND PURPOSE: Patient survival in high-grade glioma remains poor, despite the recent developments in cancer treatment. As new chemo-, targeted molecular, and immune therapies emerge and show promising results in clinical trials, image-based methods for early prediction of treatment response are needed. Deep learning models that incorporate radiomics features promise to extract information from brain MR imaging that correlates with response and prognosis. We report initial production of a combined deep learning and radiomics model to predict overall survival in a clinically heterogeneous cohort of patients with high-grade gliomas. MATERIALS AND METHODS: Fifty patients with high-grade gliomas from our hospital and 128 patients with high-grade glioma from The Cancer Genome Atlas were included. For each patient, we calculated 348 hand-crafted radiomics features and 8192 deep features generated by a pretrained convolutional neural network. We then applied feature selection and Elastic Net-Cox modeling to differentiate patients into long- and short-term survivors. RESULTS: In the 50 patients with high-grade gliomas from our institution, the combined feature analysis framework classified the patients into long- and short-term survivor groups with a log-rank test P value < .001. In the 128 patients from The Cancer Genome Atlas, the framework classified patients into long- and short-term survivors with a log-rank test P value of .014. For the mixed cohort of 50 patients from our institution and 58 patients from The Cancer Genome Atlas, it yielded a log-rank test P value of .035. CONCLUSIONS: A deep learning model combining deep and radiomics features can dichotomize patients with high-grade gliomas into long- and short-term survivors.

Efficacy and safety of daylight photodynamic therapy after tailored pretreatment with ablative fractional laser or microdermabrasion: a randomized, side-by-side, single-blind trial in patients with actinic keratosis and large-area field cancerization.

BACKGROUND: Physical pretreatments can potentiate the efficacy of daylight photodynamic therapy (dPDT), but clinical comparative studies remain limited. OBJECTIVES: Performed in large skin areas with actinic keratoses (AKs) and photodamage, this blinded, randomized clinical trial compared the efficacy and safety of dPDT after tailored skin pretreatment using ablative fractional laser (AFL) or microdermabrasion (MD). METHODS: Two ≥ 50-cm2 side-by-side skin areas were randomized to receive a single treatment with AFL-dPDT or MD-dPDT. Pretreatment parameters were tailored according to AK grade and skin constitution to ensure standardized immediate end points. Subsequently, methyl aminolaevulinate was applied, followed by 2-h daylight exposure. The primary outcome comprised blinded assessment of AK clearance at the 3-month follow-up. RESULTS: In 18 patients with 832 AKs, AFL-dPDT provided significantly higher AK clearance (81% vs. 60%, P < 0·001), led to fewer new AKs (P < 0·001) and showed superior improvement in dyspigmentation (P = 0·003) and skin texture (P = 0·001) vs. MD-dPDT. Peaking at days 3-6, AFL-PDT induced more intensified local skin responses (P = 0·004), including instances of Staphylococcus aureus infection (n = 3). Patients nonetheless preferred AFL-dPDT (P = 0·077), due to lower pretreatment-related pain (P = 0·002) and superior cosmesis (P = 0·035) and efficacy compared with MD-dPDT. CONCLUSIONS: AFL-dPDT is an effective treatment for patients with AK with extensive field cancerization, although AFL pretreatment is associated with intensified local skin reactions.

A comparison of injury scoring systems in predicting burn mortality.

The models most widely used to predict burn patient mortality are the revised Baux score, Ryan, Smith, McGwin, Abbreviated Burn Severity Index (ABSI), Belgian Outcome of Burn Injury (BOBI), and the Fatality by Longevity, APACHE II score, Measured Extent of burn, and Sex (FLAMES). Improvements in critical care have reduced mortality resulting from severe burns, which may affect the predictive strength of older models. We conducted a cross-validation study on all burn patients (n = 114) with TBSA greater than 20%, admitted to the Arizona Burn Center between 2014 and 2016. The study compared the accuracy of seven previously validated burn-specific models and one new model derived for our cohort. Data were collected on age, ethnicity, gender, total body surface area burned (TBSA), inhalational injury, associated trauma, and injury severity (ISS, APACHE II). The accuracy of each model was tested using logistic regression, preserving the published regression coefficients. Predictive performance of the models was assessed by Receiving Operator Curve (ROC) curve analyses and Hosmer-Lemeshow (H-L) goodness of fit tests. Age, TBSA and APACHE II score were found to be significant, independent risk factors for patient mortality. The FLAMES model performed best (AUC 0.96) and was comparable to our native model (AUC 0.96). The revised Baux score was both accurate and easy to calculate, making it clinically useful. The older models demonstrated adequate predictive performance compared with the newer models. Even without key burn parameters, the APACHE II score performed well in critically ill patients with moderate to severe burn injuries.

Les scores de mortalité les plus utilisés chez les brûlés sont Baux révisé, Ryan, Smith, McGwin, ABSI (Abbreviated Burn Severity Index), BOBI (Belgian Outcome of Burn Injury) et FLAMES (Fatality by Longevity APACHE 2, Measure of Extent and Sex). Les progrès en réanimation ont diminué la mortalité des patients brûlés ce qui peut diminuer la précision de ces scores. Nous avons réalisé une étude de validation croisée de ces scores sur une série de 114 patients brûlés sur plus de 20 % SCB hospitalisés dans le CTB de l 'Arizona entre 2014 et 2016. Les 7 scores sus-cités ont été étudiés, ainsi qu'un nouveau score, déduit de notre cohorte. Les données recueillies comprenaient l'âge, l'ethnie, le sexe, la SCB, l'inhalation de fumées, les traumatismes associés et la gravité du traumatisme (APACHE 2 et ISS). La précision de chacun des scores a été étudiée par régression logistique en gardant les coefficients logistiques publiés. Leur performance prédictive a été évaluée par l'analyse des courbes ROC et analyse de qualité d'ajustement de Hosmer-Lemeshow (HL). L'âge, la surface brûlée et APACHE 2 sont des facteurs de gravité indépendants. Le meilleur score déjà décrit est FLAMES (aire sous courbe ROC 0,96), cette même valeur étant obtenue avec notre score. Baux révisé est simple et précis, le rendant cliniquement utile. Les scores anciens restent efficaces vis à vis des plus récents. APACHE 2, bien que ne prenant pas en compte de données spécifiques, reste efficace chez les patients gravement brûlés.

Comparing effects of insulin analogues and human insulin on nocturnal glycaemia in hypoglycaemia-prone people with Type 1 diabetes.

AIMS: To assess the difference between analogue and human insulin with regard to nocturnal glucose profiles and risk of hypoglycaemia in people with recurrent severe hypoglycaemia. METHODS: A total of 72 people [46 men, mean ± sd age 54 ± 12 years, mean ± sd HbA1c 65 ± 12 mmol/mol (8.1 ± 1.1%), mean ± sd duration of diabetes 30 ± 14 years], who participated in a 2-year randomized, crossover trial of basal-bolus therapy with insulin detemir/insulin aspart or human NPH insulin/human regular insulin (the HypoAna trial) were studied for 2 nights during each treatment. Venous blood was drawn hourly during sleep. Primary endpoints were nocturnal glucose profiles and occurrence of hypoglycaemia (blood glucose ≤ 3.9 mmol/l). RESULTS: During insulin analogue treatment, the mean nocturnal plasma glucose level was significantly higher than during treatment with human insulin (10.6 vs 8.1 mmol/l). The fasting plasma glucose level was similar between the treatments. Nocturnal hypoglycaemia was registered during 41/101 nights (41%) in the human insulin arm and 19/117 nights (16%) in the insulin analogue arm, corresponding to a hazard ratio of 0.26 (95% CI 0.14 to 0.45; P < 0.0001) with insulin analogue. CONCLUSIONS: Treatment with insulin analogue reduces the occurrence of nocturnal hypoglycaemia assessed by nocturnal glucose profiles in people with Type 1 diabetes prone to severe hypoglycaemia. Nocturnal glucose profiles provide a more comprehensive assessment of clinical benefit of insulin regimens as compared to conventional recording of hypoglycaemia.

Contenido de plomo sanguíneo y composición corporal en mujeres jóvenes expuestas a humo de madera en la ciudad de Temuco / Blood lead levels and body composition in young women exposed to wood smoke in the city of Temuco

One of the main concerns in the cities ofdeveloping countries is the coexistence of environmental pollution, malnutrition and overweight. The city of Temuco is highly polluted and the range of circulating lead of their inhabitants is unknown. The objective of this work was to study the potential association between blood lead concentration and body composition in young women (n=45) living in the city of Temuco, which were exposed permanently to wood smoke. Blood lead concentration was analyzed by atomic absorption spectrometry with graphite furnace (AAS-GF) and the body composition was determined by isotopic dilution (deuterium). All participants presented high percentage offat mass (FM) and 66.7% of them had blood lead levels over the accepted international limits (5µgldl; EPA; USA), although lower than the Chilean normative (40µgldl), which were not correlated with the % of FM. The high percentage of overweight and obesity together with the lead blood levels found in this study constitute risk factors that may affect health and life quality of the participants in the medium term.

Uno de los problemas más frecuentes en las ciudades de países en desarrollo es la coexistencia de polución ambiental, malnutrición y sobrepeso. La ciudad de Temuco posee una elevada contaminación ambiental y se desconoce el rango de las concentraciones de plomo circulante en la población. El objetivo de este trabajo fue estudiar la concentración de plomo sanguíneo en mujeres temuquenses expuestas a humo de leña doméstico en forma continua (n=45), y su posible asociación con la composición corporal. La concentración sanguínea de plomo fue analizada por espectrofotometría de absorción atómica con horno de grafito (AAS-GF), y la composición corporal se determinó por el método de dilución isotópica (deuterio). Todas las mujeres participantes registraron elevados porcentajes de masa grasa (MG) y un 66.7% de ellas registró concentraciones de plomo sanguíneo sobre los niveles aceptados internacionalmente (5 μg/dl; EPA; USA), aunque bajo la normativa chilena (40 μg/dl), los que no se correlacionaron con el % de MG. El elevado porcentaje de sobrepeso y obesidad junto a los niveles de plomo observados en este estudio constituyen factores de riesgo que afectarán en un mediano plazo la salud y calidad de vida de las participantes.

Alterations of pituitary adenylate cyclase-activating polypeptide-like immunoreactivity in the human plasma during pregnancy and after birth.

BACKGROUND: Since its discovery, several distinct effects of pituitary adenylate cyclase activating polypeptide (PACAP) have been established - predominantly in animal studies - in the nervous system, various peripheral organs as well as in the endocrine regulation. It is unknown whether PACAP has any effect on human pregnancy regarding either utero-maternal or perinatal aspects of the gestation. AIM: We investigated alterations of PACAP38-like immunoreactivity (PACAP38-LI) in the human plasma throughout normal pregnancy, during and after delivery, and its level in the umbilical vessels, as well as in the peripheral blood of term healthy newborns. MATERIALS AND METHODS: A 2 ml blood sample was used for each test, PACAP38-LI was determined by radioimmunoassay. RESULTS: In the 2nd and 3rd trimester significant elevation was observed in the PACAP38-LI compared to the earlier gestation and non-pregnant conditions. During delivery its level significantly decreased and returned to the original values 3 days after birth. In the neonates PACAP38-LI level of the peripheral blood was similar to that of healthy adults, but umbilical arteries and veins contained significantly lower concentrations of PACAP38-LI. Besides, the levels were lower in the umbilical vein compared to the artery. CONCLUSIONS: PACAP38-LI levels show sensitive change during normal pregnancy and delivery. Our findings suggest that the fetal organs actively synthesize PACAP. Further investigations are required to elucidate the physiological importance of the alterations observed.

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by a defect in cholesterol biosynthesis, associated with mental retardation and multisystem structural abnormalities. This study investigated the prevalence of congenital CNS abnormalities by MRI in a large series of patients with SLOS and the correlation of the clinical and biochemical findings with the results of MRI and 1H MRS. Eighteen patients were studied; all underwent MRI of the brain, and 16 had 1H MRS of the cerebral white matter. The ratios choline:NAA, lipid:NAA, and lipid:choline metabolite were found to be correlated with the clinical degree of disease severity, serum total sterol ratios (cholesterol/cholesterol + 7-dehydrocholesterol + 8-dehydrocholesterol) and in two cases with the effect of cholesterol therapy. Abnormal CNS findings were noted in five patients, including callosal abnormalities (n = 4), Dandy-Walker variant (n = 1), and arachnoid cyst (n = 1). Holoprosencephaly was noted in one patient with a prevalence of 6%. Choline:NAA was elevated in seven patients. There was a statistically significant positive correlation between the lipid:choline ratio and the serum cholesterol precursor, 8-dehydrocholesterol. In two patients 1H MRS demonstrated abnormally elevated lipids prior to cholesterol therapy, which improved on therapy. The use of MRI and 1H MRS is an effective way to demonstrate brain structural abnormalities in patients with SLOS and may prove to be an effective method for the assessment of the effects of cholesterol replacement therapy in the brain.

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol Delta7-reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholesterol deficiency. We report a 3.5-year-old girl who has cognition in the low average range and normal behavior, but in whom molecular studies identified two missense mutations in DHCR7: V326L and F284L. She was born at term following an uncomplicated pregnancy and delivery, and presented at 12 days of age with poor feeding, abdominal distention, and jaundice. Colonic biopsy was consistent with Hirschsprung disease. On physical examination she had mild ptosis, a long philtrum, mild micrognathia, a short, upturned nose, and subtle 2,3 syndactyly. Her 7-dehydrocholesterol (7-DHC) level was markedly elevated at 8.7 mg/dl (normal 0.10 +/- 0.05), and her cholesterol level was normal at 61 mg/dl (normal for newborn period 50-80 mg/dl). Karyotype analysis was normal, 46,XX. Breast milk feeding was initiated and continued for 18 months. Cholesterol supplementation was implemented at 100 mg/kg/day at 3 months, which resulted in increased cholesterol levels and reduced dehydrocholesterol levels. Neuropsychological testing has shown functioning in the low average range, between the 14th and 18th centiles when compared to peers. This is markedly higher than most children with SLOS. She has no behavioral problems. MRI and MRS testing of the brain revealed no structural abnormalities. This is in contrast to a recently reported case by Prasad et al. [2002: Am J Med Genet 108:64-68] with a mild phenotype, behavioral problems, and abnormal MRI, who is compound heterozygote for both a null and missense mutation. Our case suggests that patients with severe feeding disorders with or without Hirschprung disease and postnatal onset microcephaly may warrant screening for SLOS.

Motor vehicle crash fatalities by race/ethnicity in Arizona, 1990-96.

OBJECTIVE: To compare rates of motor vehicle crash (MVC) fatalities among different race/ethnic groups in urban and rural Arizona. METHOD: Using the Fatality Analysis Reporting System and the National Center for Health Statistics Multiple Cause of Death file, MVC fatalities in Arizona from 1990-96 inclusive were classified by gender, race/ethnicity, and urban or rural residence. Age adjusted rates of total, occupant, pedestrian, and alcohol related fatalities were calculated. The total MVC fatality rate for each race/ethnic group was then adjusted for proportion of rural residence. RESULTS: Compared with non-Hispanic whites (NHWs), American Indians had raised relative risks for MVC fatality in all gender and residence subgroups. Hispanic females and rural Hispanic males had lower relative risks, as did rural African-American men. Raised relative risks for American Indian men and women included all subgroups: total, occupant, pedestrian, and alcohol related. Hispanic and African-American men both had raised relative risks of pedestrian related fatalities, and Hispanic men had a slightly higher relative risk while Hispanic women had a lower relative risks, for alcohol related fatality. Hispanic men and women and African-American men had lower occupant fatality rates. Close to half (45%) of the excess MVC fatality among American Indians can be attributed to residence in rural areas, where MVC fatality rates are higher. There were 1.85 occupants in crashes involving NHW deaths compared with 2.51 for Hispanics and 2.71 for American Indians (p<0.001). The proportion of occupants not using a seatbelt was higher in Hispanics and American Indians in both urban and rural areas. CONCLUSION: The major disparity in MVC fatality in Arizona is among American Indians. The higher MVC fatality rates among American Indians occur in all age groups, in both urban and rural areas, and among occupants and pedestrians. Rural residence, lower rates of seatbelt use, higher rates of alcohol related crashes, a greater number of occupants, and higher rates of pedestrian deaths all contribute to the American Indian MVC fatality disparity. High rates of pedestrian fatality occur in men in all three race/ethnic minorities in Arizona and among American Indian women. In contrast to other studies, African-Americans and Hispanics did not have raised total MVC fatality rates and compared to NHWs actually had lower rates in the rural areas of the state.

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.

A 2-day-old infant was evaluated and suspected of having 22q11.2 deletion based on microcephaly, short and narrow palpebral fissures, a prominent nose with hypoplastic alae nasi, thin fingers, and a right aortic arch. He also had an imperforate anus, which is not in the del 22q11.2 syndrome. Karyotype analysis identified a ring 22, while fluorescence in situ hybridization (FISH) for the DiGeorge syndrome critical region identified a 22q deletion on the other homologue. The karyotype designation was 46,XY,r(22)(p13q13.3).ish del(22)(q11.2q11.2) (D22S75-). Both parents function in the mildly mentally retarded range. The father's karyotype was normal whereas the mother had the ring 22 that was inherited by her son. This is the first case reported for abnormalities on both 22 homologues.

Neurologic nonmetabolic presentation of propionic acidemia.

BACKGROUND: Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often complicated by hyperammonemia. It was thought that the neurologic abnormalities seen in this disease were exclusively the consequences of these acute crises. Experience with 2 patients with propionic acidemia indicates that this disease may present first with prominent neurologic disease without the life-threatening episodes of ketoacidosis that usually serve as the alerting signals for a diagnosis of an organic acidemia. OBJECTIVE: To examine the clinical and metabolic aspects of 2 patients with a phenotype that suggested disease of the basal ganglia. DESIGN: Examination of patterns of organic acids of the urine and enzyme assay for propionyl-CoA carboxylase in fibroblasts and lymphocytes. SETTING: Referral population to a biochemical genetics laboratory. PATIENTS: Two patients whose prominent features were hypotonia followed by spastic quadriparesis and choreoathetosis. Both had seizures. One patient was mildly mentally retarded but grew normally physically. The other had profound mental retardation and failure to thrive; he also self-mutilated his lower lip. Self-injurious behavior has not been reported in this disease. MAIN OUTCOME MEASURES: Clinical description, blood ammonia levels, organic acid levels in the urine, and enzyme activity. RESULTS: Excretion of metabolites, including methylcitrate, was typical. Residual activity of propionyl-CoA carboxylase approximated 5% of the control in each patient. CONCLUSIONS: Propionic acidemia can present as a pure neurologic disease without acute episodes of massive ketoacidosis. Hyperammonemia may occur after infancy in some patients, presenting as Reye syndrome.