A Male Infant Who Has A White Hair Tuft and Hypopigmented Macules

2012 ◽  
Vol 33 (3) ◽  
pp. e18-e21 ◽  
Author(s):  
J. Wong
Keyword(s):  
1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.


2018 ◽  
Author(s):  
Maria Dehmel ◽  
Gabriele Hahn ◽  
Sebastian Brenner ◽  
Sonja Walsh ◽  
Nataliya Didonato ◽  
...  

Author(s):  
Daniel Martin

The Bride with White Hair (Ronny Yu, 1993) tells the tale of a heroic swordsman’s ill-fated love affair with a woman transformed by hatred into a white-haired killer, elevated the figure of the frosty-follicled executioner into one of the most enduring icons of the Hong Kong horror film. The timelessness and mysticism of the story lends itself to a highly hybridized type of horror, offering wuxia (swordplay), magical fantasy, romance and erotic scintillation alongside bloody fights, savage violence, and a monstrous depiction of malevolent conjoined twins. This chapter examines this film as emblematic of a particular cultural moment in the development of the Hong Kong fantasy-horror, appealing to a global fanbase for its supposedly transgressive and erotic content, and analyses the film in terms of its generic hybridity, its depictions of disability and morality, as well as in the context of the international marketing and reception of cult Hong Kong horror of the 1990s.


2012 ◽  
Vol 74 (5) ◽  
pp. 497-500
Author(s):  
Tomoko SAITO ◽  
Yuko USAGAWA ◽  
Akari TASHIRO ◽  
Yusuke ONO ◽  
Junko KITAJIMA ◽  
...  

2021 ◽  
pp. 089033442199107 ◽  
Author(s):  
Wei Liu ◽  
Yujie Liu ◽  
Zhenjun Liu ◽  
Changxin Hong ◽  
Jian Liu ◽  
...  

Introduction During the Coronavirus Disease 2019 global pandemic, maternal and newborn wellbeing has received much attention. Detailed reports of infected women breastfeeding their infants are uncommon. Due to incomplete information available, full data about those infants’ outcomes are lacking, and evidence of infectivity through breastfeeding has not been documented. Main Issue Here, we report about a mother who breastfed her infant until she was confirmed with the SARS-Cov-2 infection. After follow-up, we have confirmed that the infant, who was breastfed by the infected mother, was not infected. Methods A 33-year-old woman gave birth to a full-term male infant on November 8, 2019. Since birth, she had been exclusively breastfeeding the baby until she was confirmed with the SARS-Cov-2 infection on February 8, 2020. She was hospitalized, isolated from her baby, and stopped breastfeeding. Even though she remained asymptomatic, her milk was expressed using a breast pump and discarded. The mother’s milk sample was collected on February 9, 2020, and the result of the nucleic acid test for COVID-19 was negative. Her infant was asymptomatic and remained virus negative. Her laboratory findings and chest Computed Tomography imaging was normal. She was treated according to the national protocol with aerosolized interferon α2β, lopinavir/ritonavir and ribavirin. Her serum SARS-CoV-2 specific antibodies(IgG and IgM) tested positive when discharged. She returned to breastfeeding after discharge. Conclusion Our findings suggest that breastfeeding may be less of a risk than anticipated. Additional research is needed to explore this possibility.


Author(s):  
Nicholas Beng Hui Ng ◽  
Perry Yew Weng Lau
Keyword(s):  

2020 ◽  
Vol 33 (12) ◽  
pp. 1605-1608
Author(s):  
Xiao Qin ◽  
Jingzi Zhong ◽  
Dan Lan

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.


2021 ◽  
pp. 106410
Author(s):  
Ahmed Abrahim Al-Haidary ◽  
Yusuf Al-Dosari ◽  
Abd-Elatif Abd-Elwahab ◽  
Emad Mohamed Samara ◽  
Mohammed Abdo Al-Badwi ◽  
...  

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