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https://www.readbyqxmd.com/read/28938361/columellar-reconstruction-following-nasal-cpap-injury
#1
Catherine S Chang, Jordan W Swanson, Anthony Wilson, David W Low, Scott P Bartlett
Nasal continuous positive airway pressure (nCPAP) is utilized increasingly to treat pulmonary immaturity in premature neonates. Nasal injury is common with nCPAP use, with full thickness tissue loss at the columella among the most devastating complications.Columellar necrosis often imparts a full thickness injury to the overlying columellar skin, the medial crura of the lower lateral nasal cartilages, as well as the anteromedial inner nasal mucosal lining, and potentially the anterior septal cartilage. Consequently, the columella can become scarred and shortened...
September 15, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28938320/giant-peripheral-temporomandibular-osteoma-with-immediate-reconstruction-of-mandible
#2
Cláiton Heitz, Ricardo Augusto Conci, Flávio Henrique Silveira Tomazi, Guilherme Pivatto Louzada, Michel Martins Guarenti, Guilherme Genehr Fritscher
Osteoma is a benign osteogenic tumor, which is characterized the slow-growing proliferation of compact or cancellous bone. The etiology of the lesion is not well established. Among the hypotheses, the following are related: a traumatic factor, infectious processes, or true neoplasm due to the origin of cartilaginous cells. It can present at any age, usually in young adult individuals, with equal prevalence in both sexes. The clinical characteristics of the peripheral osteoma are represented by slow asymptomatic growth, which leads to swelling and, thus, facial asymmetry...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28937085/galloway-mowat-syndrome-unusual-form-of-nephrotic-syndrome-in-adolescent
#3
G Diwakar Naidu, Pathapati Deepthi, K RajaKarthik, S Sriram, G Swarnalatha, T Gangadhar
Galloway-Mowat syndrome (GMS), also acknowledged as Microcephaly-Hiatal hernia nephrotic syndrome, is an uncommon genetic disorder inherited as an autosomal recessive trait usually seen before two years of life. It is an exceptional multisystem genetic disorder with a collection of skeletal, neurological, facial, gastrointestinal, growth, and renal abnormalities. This case report describes GMS in a girl, suffering from developmental delay, stunted growth, and various dysmorphic features, in whom nephrotic syndrome became apparent at adolescent age...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28934384/short-syndrome-due-to-a-novel-de-novo-mutation-in-prkce-protein-kinase-c%C3%A9-impairing-torc2-dependent-akt-activation
#4
Diana Alcantara, Frances Elmslie, Martine Tetreault, Eric Bareke, Taila Hartley, Jacek Majewski, Kym Boycott, A Micheil Innes, David A Dyment, Mark O'Driscoll
SHORT syndrome is a rare, recognizable syndrome resulting from heterozygous mutations in PIK3R1 encoding a regulatory subunit of phosphoinositide-3-kinase (PI3K). The condition is characterized by short stature, intrauterine growth restriction, lipoatrophy and a facial gestalt involving a triangular face, deep set eyes, low hanging columella and small chin. PIK3R1 mutations in SHORT syndrome result in reduced signaling through the PI3K-AKT-mTOR pathway. We performed whole exome sequencing for an individual with clinical features of SHORT syndrome but negative for PIK3R1 mutation and her parents...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28932332/juvenile-psammomatoid-ossifying-fibroma-jpof-of-proximal-radius-a-rare-entity
#5
Jagadish Prabhu, Veena Nagaraj, Iftikhar Ahmed Mukhtar
BACKGROUND: Juvenile psammomatoid ossifying fibroma (JPOF) is a rare fibro-osseous lesion that usually occurs in the facial bones. The pathognomonic histopathologic feature is the presence of spherical ossicles, which are similar to psammoma bodies. It is considered to be a unique lesion because of its reported tendency to occur in children and adolescents and its tendency for locally aggressive growth. Because this lesion is aggressive in nature with high recurrence rate, early detection and complete surgical excision are essential...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28928975/a-unique-association-of-noonan-syndrome-and-47-xyy-syndrome-in-a-male-presenting-with-failure-to-thrive
#6
Edward J Bellfield, Zohra Shad
We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype...
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28928594/anesthesia-management-of-a-child-with-osteopetrosis
#7
Hashem Jarineshin, Fereydoon Fekrat, Mehdi Feiz Dowlat Abadi
Osteopetrosis is a rare genetic disorder of osteoclast dysfunction leading to anatomical and physiological disorders. We present the anesthesia management for the femur fracture of a 4-year-old girl with malignant infantile type of osteopetrosis. She had a ventriculoperitoneal shunt, impaired motion, visual disturbance, growth failure, facial deformity, heart murmur of moderate tricuspid regurgitation, and left ventricular heart failure, with splenomegaly and severe anemia.
July 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#8
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#9
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28905509/de-novo-setd5-loss-of-function-variant-as-a-cause-for-intellectual-disability-in-a-10-year-old-boy-with-an-aberrant-blind-ending-bronchus
#10
Claire Green, Joshua Willoughby, Meena Balasubramanian
Although rare, 3p microdeletion cases have been well described in the clinical literature. The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations. Advances in chromosome microarray (CMA) testing narrowed the 3p25 critical region to a 124 kb region, and recent Whole Exome Sequencing (WES) studies have suggested that the SETD5 gene contributes significantly to the 3p25 phenotype. Loss-of-Function (LoF) variants in SETD5 are now considered a likely cause of ID...
September 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28904276/a-case-of-acromegaly-in-which-a-pituitary-gland-tumor-was-reduced-significantly-by-administering-octreotide-long-acting-release-lar-and-could-be-removed-surgically
#11
Tadashi Arao, Yosuke Okada, Fumi Uemura, Shigeru Nishizawa, Yoshiya Tanaka
A 54-year-old woman was admitted to our hospital for detailed examination of acromegaly because she noticed bilateral hand and finger swelling at the age of 43 and plantar thickening, facial changes and unclear articulation at the age of 49. She had prominent brow ridges, mandibular protrusion, and enlargement of the hands, feet, nasal wings, lips and tongue. Her growth hormone (GH) level was 39.8 ng/ml, insulin-like growth factor-1 (IGF-1) level was 717 ng/ml, GH level was not suppressed (22.9 ng/ml) during a 75-g oral glucose tolerance test (OGTT)...
2017: Journal of UOEH
https://www.readbyqxmd.com/read/28902036/clinical-and-histological-evaluations-of-enlarged-facial-skin-pores-after-low-energy-level-treatments-with-fractional-carbon-dioxide-laser-in-korean-patients
#12
Hyuck Hoon Kwon, Sun Chul Choi, Won-Yong Lee, Jae Yoon Jung, Gyeong-Hun Park
BACKGROUND: Enlarged facial pores can be an early manifestation of skin aging and they are a common aesthetic concern for Asians. However, studies of improving the appearance of enlarged pores have been limited. OBJECTIVE: The authors aimed to study the application of CO2 fractional laser treatment in patients with enlarged facial pores. METHODS: A total of 32 patients with dilated facial pores completed 3 consecutive sessions of low energy level treatments with a fractional CO2 laser at 4-week intervals...
September 4, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#13
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901389/analysis-of-dermal-fibroblasts-isolated-from-neonatal-and-child-cleft-lip-and-adult-skin-developmental-implications-on-reconstructive-surgery
#14
Veronika Živicová, Lukáš Lacina, Rosana Mateu, Karel Smetana, Radana Kavková, Eliška Drobná Krejčí, Miloš Grim, Alena Kvasilová, Jiří Borský, Hynek Strnad, Miluše Hradilová, Jana Šáchová, Michal Kolář, Barbora Dvořánková
The nonsyndromic cleft is one of the most frequent congenital defects in humans. Clinical data demonstrated improved and almost scarless neonatal healing of reparative surgery. Based on our previous results on crosstalk between neonatal fibroblasts and adult keratinocytes, the present study focused on characterization of fibroblasts prepared from cleft lip tissue samples of neonates and older children, and compared them with samples isolated from normal adult skin (face and breast) and scars. Although subtle variances in expression profiles of children and neonates were observed, the two groups differed significantly from adult cells...
September 7, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28899882/chromosome-15-structural-abnormalities-effect-on-igf1r-gene-expression-and-function
#15
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia...
October 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28898247/prevalence-of-acromegaly-in-patients-with-symptoms-of-sleep-apnea
#16
Gemma Sesmilo, Eugenia Resmini, Marcel Sambo, Concepción Blanco, Fernando Calvo, Fernando Pazos, Pablo Fernández-Catalina, Purificación Martínez de Icaya, Concepción Páramo, Carmen Fajardo, Mónica Marazuela, Cristina Álvarez-Escolá, Juan Jose Díez, Verónica Perea
Acromegaly is a rare disease with nonspecific symptoms with acral enlargement being almost universally present at diagnosis. The estimated prevalence is 40-125 cases/million but targeted universal screening studies have found a higher prevalence (about 10 fold). The aim of the ACROSAHS study was to investigate the prevalence of acromegaly and acromegaly comorbidities in patients with sleep apnea symptoms and acral enlargement. ACROSAHS was a Spanish prospective non-interventional epidemiological study in 13 Hospital sleep referral units...
2017: PloS One
https://www.readbyqxmd.com/read/28893026/superior-vena-cava-as-gateway-to-heart-metastatic-breast-carcinoma-causing-ball-in-a-loop-metastasis-to-right-atrium
#17
Harpreet Singh Sandhu, Sampath Kumar Mahadevappa Mahendrakar, Sulaiman Sadruddin Ladhani, Azizullah Hafizullah Khan, Yunus Shafi Loya
Breast carcinoma is the most common invasive cancer in women worldwide. It metastasizes commonly to bone, lungs, regional lymph nodes and brain. Cardiac metastasis of lung and breast cancers is a known but rare complication of advanced disease with tumour metastasising to pericardium via the locoregional lymphatic system. Here we present a case of 59-year-old female presenting with right upper limb oedema, facial puffiness and features of Superior Vena Cava (SVC) syndrome 15 years after mastectomy and adjuvant chemotherapy, radiotherapy for carcinoma of the right breast...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28892148/mtor-mutations-in-smith-kingsmore-syndrome-four-additional-patients-and-a-review
#18
G Gordo, J Tenorio, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, M Palomares, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz Pérez, V Martinez-Glez, P Lapunzina
Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA: 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis...
September 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28887865/plasma-rich-plasma-the-ultimate-secret-for-youthful-skin-elixir-and-hair-growth-triggering
#19
REVIEW
Ebtisam Elghblawi
The clinical application of platelet-rich plasma (PRP) is based on the increase in the concentration of growth factors that are released from alpha-granule of the concentrated platelets and in the secretion of proteins which are able to capitalize on the healing process at the cellular level. It has been invented to restore the natural beauty by starting the natural rejuvenation process of the skin and aiming to make it function as a younger one and to keep the skin youthful and maintain it. Besides that, it is also emerged to include hairs as a new injectable procedure to enable stimulating hair growth locally and topically; preventing its fall; improving hair shaft, hair stem, and its caliber; increasing its shine, vitality, and pliability; and declining hair splitting and breakage...
September 8, 2017: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/28886341/cdk10-mutations-in-humans-and-mice-cause-severe-growth-retardation-spine-malformations-and-developmental-delays
#20
Christian Windpassinger, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Stéphane Blouin, Nur'Ain B Ali, Alvin Yu Jin Ng, Hao Lu, Sumanty Tohari, S Zakiah A Talib, Noémi van Hul, Matias J Caldez, Lionel Van Maldergem, Gökhan Yigit, Hülya Kayserili, Sameh A Youssef, Vincenzo Coppola, Alain de Bruin, Lino Tessarollo, Hyungwon Choi, Verena Rupp, Katharina Roetzer, Paul Roschger, Klaus Klaushofer, Janine Altmüller, Sudipto Roy, Byrappa Venkatesh, Rudolf Ganger, Franz Grill, Farid Ben Chehida, Bernd Wollnik, Umut Altunoglu, Ali Al Kaissi, Bruno Reversade, Philipp Kaldis
In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth. To validate and model the pathogenicity of these CDK10 germline mutations, we generated conditional-knockout mice...
September 7, 2017: American Journal of Human Genetics
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