Read by QxMD icon Read


Jingheng Wu, Wei Tian, Guanglei Tian, Kelli Sumner, Douglas T Hutchinson, Yuan Ji
Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and classification. DNA extracted from affected tissues in 12 individuals with isolated macrodactyly was tested for PIK3CA mutation using targeted Sanger DNA sequencing. Ten patients had macrodactyly in the foot and two in the hand. Nine of the 12 patients were found to carry a low-level, mosaic PIK3CA mutation...
January 1, 2018: Journal of Hand Surgery, European Volume
Grazia Morandi, Claudia Piona, Daniela Degani, May Chebl El Hachem, Nicoletta Resta, Carmela Richelli, Silvana Lauriola
The second daughter of two healthy non-consanguineous parents, born at 37 weeks, presented with a large 3×2 cm abdominal angiomatous formation on her left flank, associated with left leg hypertrophy, macrodactyly of both feet with syndactyly of the second and third finger of the right food and left polydactyly (figure 1). Her neurological development and cardiopulmonary function were normal; she had no gastrointestinal or skeletal problems. Her weight was 3195 g (75th-90th centile). edpract;archdischild-2017-314021v1/F1F1F1Figure 1Photos of the lower limbs and the left side of the abdomen reveal bilateral hypertrophy of the limbs, more evident in the left leg, macrodactyly of both feet with syndactyly of the second and third finger of the right foot and left polydactyly and a large abdominal angiomatous formation...
February 28, 2018: Archives of Disease in Childhood. Education and Practice Edition
Shengjie Tian, Jianhua Zhu, Yaogang Lu
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarity of the disease makes it common to make a misdiagnosis and cause mismanagement. CASE PRESENTATION: We reported a case of a sixteen-year-old male patient who had suffered from pain and swelling in the biopsy site for two months...
February 27, 2018: BMC Medical Genetics
Humphrey Okechi, Artemisia Dimostheni, Susanne R Kerscher, Isabel Gugel, Andrea Bevot, Juergen F Schaefer, Martin U Schuhmann
A fibrolipomatous hamartoma (FLH) is a rare lesion leading to an enlargement of the affected nerve and commonly manifests at the median nerve. Symptomatic patients are mostly adolescents or adults. In children below 10 years, this entity is rather unknown and likely to be misdiagnosed. We report three children with FLH, two severely and one mildly symptomatic, all below 4 years of age at the time of first presentation. Two of three children were initially misdiagnosed. We provide a review of the pertinent clinical and radiological findings of the entity...
April 2018: European Journal of Pediatrics
Pedro C Cavadas, Alessandro Thione
Macrodactyly is an uncommon congenital hand condition that can be difficult to treat and that can have a profound negative impact on patients and their families. Although many treatments have been described, results tend to be inconsistent. The authors report a case in which a combination of ray resection, partial finger resection, and toe transfer resulted in a 4-digit hand with acceptable function and cosmesis.
September 16, 2017: Journal of Hand Surgery
Xi Yang, Yongkang Jiang, Gang Han, Yuan Shi, Shengbo Zhou, Feng Ni, Bin Wang
Macrodactyly is a congenital disease characterized by aggressive overgrowth of adipose tissue in digits or limbs frequently accompanied with hyperostosis and nerve enlargement; its pathological mechanism is poorly understood. Adipose-derived stem cells (ASCs) have been extensively studied in tissue engineering and regenerative medicine as an ideal alternative substitute for bone marrow-derived mesenchymal stem cells (BM-MSCs), but their pathological role is largely unknown. In this study, ASCs from macrodactyly adipose tissues (Mac-ASCs) were isolated and compared to ASCs derived from the normal abdominal subcutaneous adipose tissue (Sat-ASCs) for cell morphology, surface marker expression, proliferation rate, and tri-lineage differentiation potential...
September 11, 2017: Scientific Reports
Gerarda Cappuccio, Marianna Alagia, Mariangela D'Anna, Carlotta Ranieri, Silvia Di Tommaso, Claudio Bruno, Chiara Fiorillo, Marina Pedemonte, Daria Loconte, Roberto Della Casa, Pietro Strisciuglio, Maria Isabella Ginocchio, Michele Pinelli, Nicoletta Resta, Nicola Brunetti-Pierri
Post-zygotic activating mutations in PIK3CA and other genes encoding members of PI3K-AKT-mTOR pathway have been found in various overgrowth syndromes that have been grouped together as PIK3CA-related overgrowth spectrum (PROS). We report a female patient with gait disturbance, leg pain, isolated macrodactyly of the foot, and mild intellectual disability. Imaging of the lower limb showed a lipoblastoma of the right thigh. A mosaic gain-of-function mutation in the catalytic domain of PIK3CA (c.3140 A > G; p...
September 1, 2017: European Journal of Medical Genetics
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
Y S Lim, M S Mak, P C Mohan
Tuberous sclerosis complex is a genetic disease that results in abnormal cellular proliferation and hamartoma growths in multiple organ systems. However, macrodactyly and subcutaneous fibrous harmatomas are very uncommon associations with this disease. We see these rare manifestations in our case report of a 16-year-old female with tuberous sclerosis complex and discuss the imaging findings and pathogenetics of these manifestations. Through this, our report aims to expand the known clinical spectrum of features seen in tuberous sclerosis and aid in its diagnosis...
September 2017: Skeletal Radiology
Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, Mie Inaba, Kumiko Kuwata, Naoki Hanada, Tsuyoshi Morishita, Seiji Mizuno, Nobuaki Wakamatsu
The phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR signaling pathway is critical for cellular growth and metabolism. Recently, mosaic or segmental overgrowth, a clinical condition caused by heterozygous somatic activating mutations in PIK3CA, was established as PIK3CA-related overgrowth spectrum (PROS). In this study, we report a Japanese female diagnosed with PROS, who presented with hyperplasia of the lower extremities, macrodactyly, multiple lipomatosis, and sparse hair. Sequencing and mutant allele frequency analysis of PIK3CA from affected tissues revealed that the patient had a heterozygous mosaic mutation (c...
July 11, 2017: Oncotarget
J W Park, J Kim, G H Baek
No abstract text is available yet for this article.
January 1, 2017: Journal of Hand Surgery, European Volume
Karthikeyan P Iyengar, Hosam E Matar, Khushroo Suraliwala
No abstract text is available yet for this article.
January 6, 2017: BMJ Case Reports
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
Ali Firat Sarp, Yeliz Pekcevik
Lipomatosis of the nerve, also known as fibrolipomatous hamartoma, is characterized by the infiltration of the nerve by fibro-fatty tissue. The affected nerve becomes thicker, and it simulates a mass lesion. Lipomatosis usually affects the median nerve and lipomatosis of the sciatic nerve is extremely rare. Magnetic resonance imaging (MRI) is the key to diagnosis, and it is usually pathognomonic. In this report, MRI and diffusion-weighted MRI findings of a case of a giant sciatic nerve lipomatosis without macrodactyly are presented...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
Q H Liao, K H Zhu
No abstract text is available yet for this article.
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
B Salazard, C Philandrianos, A Gaudeuille
Malformations and deformations of the forefoot are a frequent reason for consultation. The most frequent malformations viewed at birth are syndactylies (second web space), clinodactylies (quintus varus, halllux), polydactylies (hallux, fifth toe). The macrodactylies, hypoplasia, amniotic bands are rare. The management of these defects requires knowledge of surgery adult foot, plastic surgery and especially collaboration with physiotherapists, podiatrists and orthotists. The fast growth of the foot the first year and the development of walking at one year require to start early the treatment of deformations and to anticipate the evolution of malformations...
October 2016: Annales de Chirurgie Plastique et Esthétique
Rohan K Henry, Monika Chaudhari, Sasigarn A Bowden
No abstract text is available yet for this article.
October 2016: Clinical Pediatrics
H-J Lee, P-T Kim, S-J Lee, H-J Kim, I-H Jeon, I Seo
We report the long-term results of a single-stage reduction procedure for the treatment of macrodactyly. Six patients (eight cases) were included. These patients underwent a single-stage operation that included debulking with resection of the hypertrophied digital nerve and distal interphalangeal joint fusion or corrective osteotomy. Plain radiographs and functional parameters were assessed. Aesthetic improvement was achieved in all patients. The mean ratios of the lengths and circumference differences between the affected digit and the corresponding normal digit on the other hand were 1:1 and 1:1, respectively...
August 11, 2016: Journal of Hand Surgery, European Volume
Walid Moudrous, Jasper van der Ree, Fiek van Tilborg, Leo H Visser
No abstract text is available yet for this article.
October 2016: Practical Neurology
Peter M Waters, Bryce T Gillespie
Macrodactyly of the hand is a rare condition. Although the underlying mechanism is being more fully elucidated, surgical intervention is typically required to improve the size and function of the affected digits. However, when an involved digit(s) is rapidly progressive in size, ray resection amputation may be the most appropriate treatment. Clinical cases are presented to illustrate single-digit and 2-digit ray resection amputations for progressive macrodactyly.
August 2016: Journal of Hand Surgery
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"