We report on 4 new cases of mildly retarded patients with marfanoid habitus and a characteristic constellation of minor anomalies. These patients, although sporadic, are likely to be affected by the same X-linked type of mental retardation described by Lujan et al. (American Journal of Medical Genetics 17:311-322, 1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics 28:267-274, 1987). The similar psychiatric history in 2 of our patients suggests that psychotic behaviour could be an additional manifestation, previously unrecognized in this condition. Late diagnosis of this relatively new syndrome in all our patients confirms the difficulty of the nosologic definition of mentally retarded individuals on clinical grounds alone. On the other hand, the Lujan-Fryns syndrome appears to be more common than one would have thought.

Background: The COVID-19 pandemic has had a wide impact on both pregnant women and their babies. Necrotizing enterocolitis (NEC) is a gastrointestinal emergency in neonates with high morbidity and mortality. Objective: This study aims to investigate the incidence of NEC in preterm infants born to mothers with confirmed COVID-19. Methods: This observational study was conducted in neonatal intensive care unit at Dr. Soetomo General Academic Hospital, Surabaya, Indonesia, from May 2020 to April 2021. All preterm infants born to mothers with positive COVID-19 based on swab examination were included as study participants. PCR swab examination was performed within 48 hours after birth. The diagnosis of COVID-19 was defined as positive if the swab test result could detect the SARS-CoV-2 virus. The diagnosis of NEC was established by clinical symptoms and confirmed by abdominal radiography. Results: Out of 45 preterm infants included in this study, 6 infants experienced NEC. Factors that were significantly associated with the incidence of NEC included asphyxia and intubated mother. Positive PCR results from the infants alone did not significantly increase the risk of NEC. The combination of asphyxia and intubated mother (Odds Ratio [OR]=10.000, 95% Confidence Interval [CI]=1.056-94.677, P=0.020) and the combination of positive PCR result, asphyxia, and intubated mother (OR=2.438, 95% CI=1.673-3.551, P=0.007) were found to be significantly associated with the incidence of NEC Conclusion: Significant factors associated with the incidence of NEC in preterm infants born to mothers with COVID-19 included asphyxia and intubated mothers prior to delivery. A positive PCR result alone did not significantly increase the risk of NEC.

BackgroundThis study aimed to analyze the relationship between glial fibrillary acidic protein (GFAP), glial-derived neurotrophic factor (GDNF), and fatty acid-binding protein-2 (FABP-2) in preterm infants on the incidence of NEC.MethodsPreterm infants with a birth weight <1,500 g and gestational age <34 weeks were included in this study. Biomarker examination was performed using the umbilical vein blood at birth (first sample). Biomarker examination was repeated if the infant developed symptoms of NEC using peripheral vein blood (second sample). Infants were observed for 14 days. If NEC did not exist, a biomarker examination was performed at 14 days.ResultsThis study included 30 preterm infants, nine infants experienced NEC. The values of GFAP, GDNF, and FABP-2 (median and range) in the group with NEC were higher than those in the group without NEC in both the first samples {GFAP [1.40 (0.20–6.50) vs. 0.30 (0.10–1.30) P = 0.014], GDNF [2.84 (1.05–14.11) vs. 1.56 (1.07–3.48) P = 0.050], and FABP-2 [621.70 (278.40–2,207.00) vs. 294.20 (211.40–597.50) P = 0.002]} and second samples {GFAP [2.40 (0.30–3.10) vs. 0.30 (0.10–0.60) P = 0.003], GDNF [2.99 (0.56–10.30) vs. 1.46 (0.85–2.24) P = 0.019], and FABP-2 [646.8 (179.20–1,571.00) vs. 314.90 (184.70–521.60) P = 0.040]}. In infants with NEC, the median values of GFAP [2.40 (0.30–3.10) vs. 1.40 (0.20–6.50) P = 0.767], GDNF [2.99 (0.56–10.30) vs. 2.84 (1.05–14.11) P = 0.859], and FABP-2 [646.80 (179.20–1,571.00) vs. 621.70 (278.40–2,207.00) P = 0.953] in the second sample were higher than those in the first sample. Logistic regression demonstrated that GFAP at birth (Odds Ratio [OR] = 15.629, 95% Confidence Interval [CI] = 1.697–143.906, P = 0.015) and FABP-2 levels at birth (OR = 1.008, 95% CI = 1.001–1.015, P = 0.033) were significantly associated with an increased risk of NEC.ConclusionIncreased GFAP, GDNF, and FABP-2 at birth are associated with NEC occurrence within two weeks of birth. These findings suggest that early-onset NEC is associated with intestinal injury that occurs during the perinatal or even prenatal period.

Penelitian bertujuan untuk menguji efek antidiabetik ekstrak daun gondola (Basella rubra L.) pada kadar gula darah tikus putih (Rattus norvegicus) yang diinduksi Alloxan. Penelitian ini merupakan penelitian eksperimen dengan menggunakan 35 ekor tikus putih. Tikus tersebut dibagi menjadi lima kelompok perlakuan, yakni: P1; P2; P3; kontrol negatif (K-); dan kontrol positif (K+). Masing-masing kelompok diinduksi menggunakan Alloxan untuk meningkatakan kadar gula darah. Kelompok P1; P2; P3 diberi ekstrak daun gendola dengan dosis 200; 300; 400 mg/kgBB/hari. Kelompok K+ diberi obat glimepirid 0.1 mg/kgBB/hari. Kelompok P1 mengalami penurunan kadar gula darah yang tidak signifikan sebesar 30.14 mg/dL (p-value=0.128); kelompok P2 mengalami penurunan kadar gula darah tidak signifikan sebesar 25.80 mg/dL (p-value=0.159); kelompok P3 mengalami penurunan kadar gula darah yang signifikan sebesar 42.80 mg/dL (p-value=0.043). Kelompok kontrol negatif mengalami peningkatan kadar gula darah sebesar 116.00 mg/dL (p-value=0.084). Kelompok kontrol positif mengalami penurunan kadar gula darah yang signifikan sebesar 21.60 mg/dL (p-value=0.011). Ekstrak daun gendola 400 mg/kgBB/hari dapat menurunkan kadar gula darah tikus dengan perbedaan tidak signifikan apabila dibandingkan dengan obat antidiabetes glimepirid 0.1 mg/kgBB/hari.

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