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Congenital malformations

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https://www.readbyqxmd.com/read/28102591/hyperinsulinemic-hypoglycemia-in-beckwith-wiedemann-sotos-and-kabuki-syndromes-a-nationwide-survey-in-japan
#1
Naoko Toda, Kenji Ihara, Kanako Kojima-Ishii, Masayuki Ochiai, Kazuhiro Ohkubo, Yutaka Kawamoto, Yoshinori Kohno, Sakae Kumasaka, Akihiko Kawase, Yasuhisa Ueno, Takeshi Futatani, Tokuo Miyazawa, Yuko Nagaoki, Setsuko Nakata, Maiko Misaki, Hiroko Arai, Masahiko Kawai, Maki Sato, Yukari Yada, Nobuhiro Takahashi, Atsushi Komatsu, Kanemasa Maki, Shinichi Watabe, Yutaka Sumida, Makoto Kuwashima, Hiroshi Mizumoto, Kazuo Sato, Toshiro Hara
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan. We sent a primary questionnaire concerning the clinical experience for these syndromes to 347 perinatal care institutions...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102169/hip-joint-arthroplasty-in-pubic-symphysis-separation-in-the-course-of-congenital-bladder-exstrophy-study-of-two-cases
#2
Marek Drobniewski, Andrzej Borowski, Magdalena Krasmska, Marcin Sibmski, Marek Synder
Congenital bladder exstrophy is a severe congenital malformation identified in one out of 30,000-50,000 live newborns and seen more often in girls. Some patients develop osteoarthritis of the hip joints which requires total hip arthroplasty. Reports of such cases are very rare in the world literature, which prompted us to present two cases treated at our Department and analyse their early outcomes. Our experience so far has been rather modest but the results encourage considering total hip arthroplasty in the treatment of hip osteoarthritis in future patients with pubic symphysis separation in the course of congenital bladder exstrophy...
August 30, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28101147/a-double-gallbladder-with-a-common-bile-duct-stone-treated-by-laparoscopy-accompanied-by-choledochoscopy-via-the-cystic-duct-a-case-report
#3
Wei Yu, Huisheng Yuan, Shi Cheng, Ying Xing, Wenmao Yan
A double gallbladder is a rare congenital malformation. The present study describes a case of double gallbladder with secondary common bile duct stones. By way of laparoscopic choledochoscopy, the exploration and removal of a common bile duct stone was performed through the cystic duct. The process involved a primary suture of the cystic duct and was performed without using a T-tube, and completed a surgical removal of the gallbladder. The present case was successfully treated by laparoscopic surgery. From a review of previous studies published in the English language, this study, to the best of our knowledge, is the first report of such a case...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100980/accessory-mitral-valve-leaflet-causing-severe-left-ventricular-outflow-tract-obstruction-in-a-preterm-neonate-with-a-partial-atrioventricular-septal-defect
#4
J Kevin Wilkes, Charles D Fraser, Thomas J Seery
Atrioventricular septal defects represent a class of congenital cardiac malformations that vary in presentation and management strategy depending upon the severity of the particular lesions present. We present the case of a premature neonate who had a partial atrioventricular septal defect and an accessory mitral (or left atrioventricular) valve leaflet. The latter caused severe left ventricular outflow tract obstruction and severely depressed left ventricular function. We found only one other report of this atrioventricular valve abnormality in association with atrioventricular septal defect...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28100381/-trend-of-mortality-of-congenital-malformation-in-children-aged-5-years-in-beijing-2006-2015
#5
J Wang, D Y Li, W X Zhang, Y C Li, J Wang
Objective: To investigate the change in mortality of congenital malformation in children aged <5 years in Beijing from 2006 to 2015. Methods: Using the death surveillance data in children aged <5 years in Beijing from 2006 to 2015, which was collected from the real-time surveillance network, we calculated the area and age distributions of the mortality of congenital malformation in children aged <5 years in Beijing. Meanwhile, the variations of age, time and space in the causes of deaths were discussed...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28100192/design-and-rationale-of-a-large-international-prospective-cohort-study-to-evaluate-the-occurrence-of-malformations-and-perinatal-neonatal-death-using-insulin-detemir-in-pregnant-women-with-diabetes-in-comparison-with-other-long-acting-insulins
#6
Elisabeth R Mathiesen, Henning Andersen, Sofia I I Kring, Peter Damm
BACKGROUND: There are a lack of data regarding the effect of basal insulin analogues on rates of events like congenital malformation and perinatal mortality in diabetic pregnancy. METHODS: The present study is a prospective, non-interventional, multicentre cohort study conducted in seven countries, designed to assess the safety of insulin detemir during pregnancy, and to monitor the health status of resulting infants (exposed in utero) up to 1 year of age. The study population includes women with type 1 or type 2 diabetes, who are pregnant and being treated with insulin...
January 18, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28096840/video-assisted-thoracoscopic-surgery-vats-right-upper-lobectomy-for-non-small-cell-lung-cancer-with-an-azygos-lobe
#7
Ozgur Samancilar, Tevfik İlker Akçam, Seyda Ors Kaya, Serpil Sevinc, Onur Akcay, Kenan Can Ceylan
Although it is not a pathologically significant entity, cases of azygos lobe (AL) are interesting due to the difficulty of performing video-assisted thoracoscopic surgery (VATS) procedures in the affected patients and the presence of a congenital malformation. Currently, videothoracoscopic surgery has advanced to such a level that most thoracic procedures can be performed with video assistance. However, some technical difficulties may arise in cases with anatomical anomalies such as AL. This report presents the case of a patient with an azygos lobe who underwent videothoracoscopic lung resection due to the presence of non-small-cell lung carcinoma in the upper lobe of the right lung...
December 2016: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28092970/surgery-of-anterior-skull-base-lesions-in-children
#8
Thomas Karl Hoffmann, Marc Oliver Scheithauer, Fabian Sommer, Jörg Lindemann, Ernst-Johannes Haberl, Ulrike Friebe-Hoffmann, Marie-Nicole Theodoraki
INTRODUCTION: Lesions affecting the anterior skull base represent a rare group of craniofacial pathologies. A tumor of the facial midline, meningitis, or rhinoliquorrhea may be indicative of malformations like dermoid cysts, gliomas, encephaloceles, or nasal fistulas. METHODS: We present a case series of 13 children (4 months to 12 years; 8 males, 5 females) with lesions involving the anterior skull base, which were treated surgically in an interdisciplinary setting...
January 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28087956/intralesional-injection-of-ok-432-in-cystic-hygroma
#9
M Hazim, S S Moses, I P Tan
BACKGROUND: Lymphangiomas are congenital malformations of the lymphatic system with characteristic dilated endothelium-lined spaces. It is vulnerability to infection or chemical irritants cause spontaneous reduction in size and in some cases complete resolution. Intralesional injection of OK-432 or Picibanil (lyophilized incubation mixture of Group A Streptococcus pyogenes of human origin) is slowly gaining recognition as its safety and efficacy standards have shown to avoid complications resulting from surgical interventions...
December 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#10
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28087231/psychosocial-outcome-in-adult-men-born-with-hypospadias
#11
L Örtqvist, M Andersson, A Strandqvist, A Nordenström, L Frisén, G Holmdahl, A Nordenskjöld
INTRODUCTION: Hypospadias, which is a surgically treated congenital malformation of the male urethra, may have a negative impact on quality of life. This aspect has previously been subject to limited research. This study examined the long-term psychosocial outcome of a large cohort of adult males born with hypospadias. OBJECTIVE: The purpose of this case-control study was to assess a possible negative influence on the psychosocial outcome in adult males with hypospadias...
September 9, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28087183/co-expression-of-tissue-factor-and-il-6-in-immature-endothelial-cells-of-cerebral-cavernous-malformations
#12
Shouhei Noshiro, Takeshi Mikami, Yuko Kataoka-Sasaki, Masanori Sasaki, Hirofumi Ohnishi, Shunya Ohtaki, Masahiko Wanibuchi, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
Cerebral cavernous malformations (CCMs) are congenital abnormal clusters of capillaries that are prone to leaking and thought to result from a disorder of endothelial cells. The underlying pathology of CCM is not fully understood. We analyzed the expression of tissue factor (TF) and interleukin-6 (IL-6) in CCMs to determine the association of TF and IL-6 with clinical and pathological findings. Thirteen cases of operative specimens of sporadic CCMs were included in this study. The expression of messenger RNA of TF and IL-6 was assayed and the association with clinical factors was investigated...
January 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28079942/treatment-of-capillary-malformation-using-topical-timolol-combined-with-585-nm-pulsed-dye-laser-a-prospective-randomized-split-lesion-study
#13
Sang-Jin Cheon, Woo-Haing Shim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Capillary malformation (CM) is a congenital vascular malformation characterized by the dilation of superficial dermal blood vessels.(1)  Currently, pulsed dye laser (PDL) is considered the gold standard for the treatment of CM.(1)  However, its use results in incomplete clearance despite multiple sessions and relapses during long-term follow-up.(1)  Alternative methods are needed to achieve improved therapeutic results. This article is protected by copyright. All rights reserved.
January 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28079822/successfully-treated-congenital-cystic-adenomatoid-malformation-by-open-fetal-surgery-a-care-compliant-case-report-of-a-5-year-follow-up-and-review-of-the-literature
#14
Dazhi Fan, Shuzhen Wu, Rui Wang, Yi Huang, Yao Fu, Wen Ai, Meng Zeng, Xiaoling Guo, Zhengping Liu
BACKGROUND: Congenital cystic adenomatoid malformation (CCAM) is a rare hamartomatous cystic lesion. Open fetal surgery currently provides a potential therapeutic option for management of a fetus with CCAM diagnosis. CASE SUMMARY: A 22-year-old G2P0 woman presented at (Equation is included in full-text article.)weeks' gestation for evaluation of a fetus with a left lung lesion and diagnosed as CCAM at (Equation is included in full-text article.)weeks' gestation...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079116/katanin-p80-numa-and-cytoplasmic-dynein-cooperate-to-control-microtubule-dynamics
#15
Mingyue Jin, Oz Pomp, Tomoyasu Shinoda, Shiori Toba, Takayuki Torisawa, Ken'ya Furuta, Kazuhiro Oiwa, Takuo Yasunaga, Daiju Kitagawa, Shigeru Matsumura, Takaki Miyata, Thong Teck Tan, Bruno Reversade, Shinji Hirotsune
Human mutations in KATNB1 (p80) cause severe congenital cortical malformations, which encompass the clinical features of both microcephaly and lissencephaly. Although p80 plays critical roles during brain development, the underlying mechanisms remain predominately unknown. Here, we demonstrate that p80 regulates microtubule (MT) remodeling in combination with NuMA (nuclear mitotic apparatus protein) and cytoplasmic dynein. We show that p80 shuttles between the nucleus and spindle pole in synchrony with the cell cycle...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28077667/the-role-of-the-cerebellum-in-high-stages-of-motor-planning-hierarchy
#16
Luca Casartelli, Alessandra Federici, Ambra Cesareo, Emilia Biffi, Giulia Valtorta, Massimo Molteni, Luca Ronconi, Renato Borgatti
Motor planning is not a monolithic process, and distinct stages of motor planning are responsible for encoding different levels of abstractness. However, how these distinct components are mapped into different neural substrates remains an open question. We studied one of these high-level motor planning components, defined as second-order motor planning, in a patient (R.G.) with an extremely rare case of cerebellar agenesis but without any other cortical malformations. Second-order motor planning dictates that when two acts have to be performed sequentially, planning of the second act can influence the execution of the first...
January 11, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28076021/radiologic-assessment-of-native-renal-vasculature-a-multimodality-review
#17
Sayf Al-Katib, Monisha Shetty, Syed Mohammad A Jafri, Syed Zafar H Jafri
A wide range of clinically important anatomic variants and pathologic conditions may affect the renal vasculature, and radiologists have a pivotal role in the diagnosis and management of these processes. Because many of these entities may not be suspected clinically, renal artery and vein assessment is an essential application of all imaging modalities. An understanding of the normal vascular anatomy is essential for recognizing clinically important anatomic variants. An understanding of the protocols used to optimize imaging modalities also is necessary...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#18
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28074821/acyanotic-congenital-heart-disease-and-transesophageal-echocardiography
#19
REVIEW
Rupa Sreedhar
The spectrum of congenital heart disease (CHD) seen in the adult varies widely. Malformations range from mild anomalies requiring no intervention to extremely complex pathologies characterized by the presence of multiple coexistent defects. Echocardiography represents the primary noninvasive imaging modality in the assessment of these lesions. The transesophageal approach expands the applications of echocardiography by allowing the acquisition of anatomic and functional information that may not be obtainable by transthoracic imaging...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28074532/pathogenesis-of-developmental-anomalies-of-the-central-nervous-system-induced-by-congenital-cytomegalovirus-infection
#20
REVIEW
Hideya Kawasaki, Isao Kosugi, Shiori Meguro, Toshihide Iwashita
In humans, the herpes virus family member cytomegalovirus (CMV) is the most prevalent mediator of intrauterine infection-induced congenital defect. Central nervous system (CNS) dysfunction is a distinguishing symptom of CMV infection, and characterized by ventriculoencephalitis and microglial nodular encephalitis. Reports on the initial distribution of CMV particles and its receptors on the blood brain barrier (BBB) are rare. Nevertheless, several factors are suggested to affect CMV etiology. Viral particle size is the primary factor in determining the pattern of CNS infections, followed by the expression of integrin β1 in endothelial cells, pericytes, meninges, choroid plexus, and neural stem progenitor cells (NSPCs), which are the primary targets of CMV infection...
January 10, 2017: Pathology International
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