ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

PubMed Central

Syngal, Sapna; Brand, Randall E.; Church, James M.; Giardiello, Francis M.; Hampel, Heather L.; Burt, Randall W.

2015-01-01

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. PMID:25645574

Knee fusion--a new technique using an old Belgian surgical approach and a new intramedullary nail.

PubMed

Alt, V; Seligson, D

2001-02-01

Knee arthrodesis is a useful procedure in difficult cases such as failed total knee arthroplasty, severe articular trauma, bone tumors, and infected knee joints. The most common techniques for knee fusion include external fixation and intramedullary nailing. Küntscher's nail is driven antegrade from the intertrochanteric region into the knee. We describe a new technique for knee arthrodesis using a new intramedullary nail and an old Belgian surgical approach to the knee joint published by Lambotte in 1913. This approach provides excellent exposure for the implantation of the nail by osteotomizing the patella vertically. The nail is implanted using HeyGroves method, whereby the nail is inserted retrograde into the femur and pulled distally anterograde into the tibia. We now use this technique as our standard procedure for knee fusion.

Hereditary Pheochromocytoma.

PubMed

Santos, Pedro; Pimenta, Tiago; Taveira-Gomes, Antonio

2014-08-01

Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare neuroendocrine tumors with an estimated occurrence of 2 to 5 patients per million per year and an incidence of about 1 per 100 000 in the general population. These tumors may arise sporadically or be associated to various syndromes, namely multiple endocrine neoplasia type 2, neurofibromatosis type 1, Von Hippel-Lindau syndrome, and hereditary paraganglioma-pheochromocytoma syndromes. This article aims to review the current epidemiology, pathogenesis, clinical presentation, and genetic aspects of syndromes associated with hereditary PHEO/PGL. The literature research, conducted at PubMed database, included review articles, published from February 2009 to February 2014, written in English or Portuguese, using as query: "Hereditary AND Pheochromocytoma." These tumors can be part of a myriad hereditary conditions that are not yet fully understood. Nevertheless, important systemic symptoms and even fatal outcomes can occur. Knowledge of these hereditary conditions can ensure a more efficient detection, treatment, and even prevention of these neuroectodermal tumors, thus new tests and studies should be conducted. © The Author(s) 2014.

Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome).

PubMed

Tins, Bernhard; Cassar-Pullicino, Victor

2003-05-01

A case of bilateral synovial osteochondromatosis in a patient with hereditary arthro-ophthalmopathy is presented. The osteochondral lesions were largely calcified in one joint and largely chondromatous in the other. Typical features of hereditary arthro-ophthalmopathy are reviewed and it is hypothesised that the abnormal collagen in this syndrome is responsible for the development of synovial osteochondromatosis. Synovial manifestations of skeletal dysplasias have to our knowledge not been described previously but we suggest that synovial osteochondromatosis can be the manifestation of an underlying skeletal dysplasia.

[Clinicopathological characteristics of hereditary ovarian cancer syndrome].

PubMed

Zhong, Yan; Sheng, Xiu-gui; Ma, Zhi-fang; Ma, Yue-bing; Liu, Nai-fu; Chen, Yue-ting; Gao, Rong; Wang, Ying-ying; Sun, Li

2009-09-01

To explore the clinicopathological characteristics of hereditary ovarian cancer syndrome (HOCS). From Jan. 2000 to Jan. 2007, among 580 cases of primary ovarian cancer, 42 cases (hereditary group), who had a positive family history of ovarian cancer and met the diagnostic criteria of HOCS, were analyzed retrospectively. One hundred cases without a family history of ovarian cancer were enrolled randomizely as control group (sporadic group). The incidence of HOCS was 7.2% (42/580). Forty-two cases associated tumors affected at least 2 successive generations in 31 families and affected 1 generation in 8 families. Eighty-seven percent (27/31) was from maternal lineage, while 13% (4/31) from paternal lineage. Earlier age of onset was significantly difference between two groups [(49 +/- 10) years vs. (55 +/- 10) years, P < 0.05]. There were 90% belong to serous adenocarcinoma in the hereditary group, while 84% in the sporadic group. There was statistical difference in the proportion of mucinous adenocarcinoma (0 vs. 11%, P < 0.05). The most common clinical manifestations were abdominal distention and anorexia (64% vs. 70%, P > 0.05), International Federational of Gynecology Obstetrics (FIGO) stage III (62% vs. 63%, P > 0.05) between two groups. Fourteen cases (33%,14/42) were previously untreated in the hereditary group, while 40 cases (40%, 40/100) in the sporadic group. There were 15 cases (36%, 15/42) underwent secondary surgery and 15 cases (36%, 15/42) underwent third surgery or more in hereditary group, while 50 cases (50%,50/100) and 27 cases (27%, 27/100) in the sporadic group. The mean number of chemotherapy cycles received in two groups was 13.3 and 11.8 (P > 0.05). The 3-year and 5-year survival rate in hereditary group were 73.6% and 54.9% respectively, compared with 47.4% and 21.2% (P < 0.05) in sporadic group. Hereditary ovarian cancer mostly from maternal lineage are featuring in early age of onset, serous adenocarcinoma, advanced stage (stage III), and

Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome.

PubMed Central

Nielsen, J E; Jensen, L N; Krabbe, K

1995-01-01

Hereditary haemochromatosis is characterised by excessive parenchymal iron deposition, particularly in the liver. Usually hereditary haemochromatosis is not associated with neurological symptoms and iron deposition in the brain has not previously been described as a pathological phenomenon. A patient is reported with hereditary haemochromatosis and a syndrome of dementia, dysarthria, a slowly progressive gait disturbance, imbalance, muscle weakness, rigidity, bradykinesia, tremor, ataxia, and dyssynergia. The findings on MRI of a large signal decrease in the basal ganglia, consistent with excessive iron accumulation, indicate a causal relation to the symptoms. Although the neurological symptoms did not improve in our patient, hereditary haemochromatosis should be considered in the differential diagnosis of parkinsonian syndromes, because complications of iron induced organ injury may be prevented by phlebotomy. Images PMID:7673967

Patella morphological alteration after patella instability in growing rabbits.

PubMed

Niu, Jinghui; Qi, Qi; Niu, Yingzhen; Dong, Conglei; Dong, Zhenyue; Cui, Peng; Wang, Fei

2017-07-11

The shape of the patella has been considered to be a predisposing factor resulting in patellar instability, but the effects of abnormal patella position during its development are unclear. The present study evaluated patellar morphological changes after patella instability and evaluated the influence of patellar instability on the patella shape. Twenty rabbits that were 2 months old were included in the study. The left knee of each rabbit, defined as the experimental group (N = 20 knees/group), underwent a medial soft tissue restraint release. The right knee of each rabbit, defined as the control group (N = 20 knees/group), did not undergo any surgical procedures. A CT scan was performed on each knee before surgery and 6 months post-surgery to measure the transverse diameter, thickness, Wiberg index, and Wiberg angle for analysis of the patellar morphological changes. Cross-specimen examination was conducted to evaluate the differences between the experimental group and the control group. The four indices remained the same between the two groups before surgery. However, 6 months after surgery, the mean transverse diameter of the patellae in the experimental group was significantly longer than that in the control group (P < 0.001), while the mean thickness in the experimental group was not significantly greater than that in the control group (P = 0.314), resulting in a flattened shape. The Wiberg indices were not significantly different between the two groups. However, the mean Wiberg angle was higher in the experimental group than in the control group (P < 0.001), which resulted in a flattened articular surface of the patella. The sectional shape and articular surface of the patella became more flattened after patella instability in this study, which indicates that patella dysplasia could be caused by patella instability. Clinically, early intervention for adolescent patients with patella instability is important.

Green Nail Syndrome

MedlinePlus

... if continued for one to four months. Alternatively, chlorine bleach, diluted 1:4 with water, is effective in suppressing growth of P. aeruginosa when applied topically to affected nails. Vinegar (acetic acid) has been reported to be useful in this ...

Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?

PubMed Central

Wong, Adele; Ngeow, Joanne

2015-01-01

Endometrial carcinoma is the most common gynecological tumor worldwide. It can be the presenting malignancy, acting as the harbinger, of an undiagnosed hereditary syndrome. Up to 50% of females with Lynch syndrome present in this manner. Differentiation between Lynch, Muir-Torre, and Cowden syndromes can at times be challenging due to the overlapping features. Our review emphasizes on the strengths, pitfalls, and limitations of microscopic features as well as immunohistochemical and polymerase chain reaction- (PCR-) based tests used by laboratories to screen for DNA mismatch repair (MMR) and PTEN gene mutations in patients to enable a more targeted and cost effective approach in the use of confirmatory gene mutational analysis tests. This is crucial towards initiating timely and appropriate surveillance measures for the patient and affected family members. We also review the evidence postulating on the possible inclusion of uterine serous carcinoma as part of the spectrum of malignancies seen in hereditary breast and ovarian carcinoma syndrome, driven by mutations in BRCA1/2. PMID:26161390

Reliability of clinical findings and magnetic resonance imaging for the diagnosis of chondromalacia patellae.

PubMed

Pihlajamäki, Harri K; Kuikka, Paavo-Ilari; Leppänen, Vesa-Veikko; Kiuru, Martti J; Mattila, Ville M

2010-04-01

This diagnostic study was performed to determine the correlation between anterior knee pain and chondromalacia patellae and to define the reliability of magnetic resonance imaging for the diagnosis of chondromalacia patellae. Fifty-six young adults (median age, 19.5 years) with anterior knee pain had magnetic resonance imaging of the knee followed by arthroscopy. The patellar chondral lesions identified by magnetic resonance imaging were compared with the arthroscopic findings. Arthroscopy confirmed the presence of chondromalacia patellae in twenty-five (45%) of the fifty-six knees, a synovial plica in twenty-five knees, a meniscal tear in four knees, and a femorotibial chondral lesion in four knees; normal anatomy was seen in six knees. No association was found between the severity of the chondromalacia patellae seen at arthroscopy and the clinical symptoms of anterior knee pain syndrome (p = 0.83). The positive predictive value for the ability of 1.0-T magnetic resonance imaging to detect chondromalacia patellae was 75% (95% confidence interval, 53% to 89%), the negative predictive value was 72% (95% confidence interval, 56% to 84%), the sensitivity was 60% (95% confidence interval, 41% to 77%), the specificity was 84% (95% confidence interval, 67% to 93%), and the diagnostic accuracy was 73% (95% confidence interval, 60% to 83%). The sensitivity was 13% (95% confidence interval, 2% to 49%) for grade-I lesions and 83% (95% confidence interval, 59% to 94%) for grade-II, III, or IV lesions. Chondromalacia patellae cannot be diagnosed on the basis of symptoms or with current physical examination methods. The present study demonstrated no correlation between the severity of chondromalacia patellae and the clinical symptoms of anterior knee pain syndrome. Thus, symptoms of anterior knee pain syndrome should not be used as an indication for knee arthroscopy. The sensitivity of 1.0-T magnetic resonance imaging was low for grade-I lesions but considerably higher for more

Forensic Identification of Bipartite Patella Misdiagnosed as Patella Fracture.

PubMed

Ma, Jingyuan; Shi, Fang; Huang, Chongya; Gu, Shanzhi

2017-07-01

Bipartite patella is recognized as a developmental anomaly of ossification. Most of them are asymptomatic and are discovered incidentally. Bipartite patella is sometimes misdiagnosed as a patella fracture, because the x-ray images of both these conditions may appear very similar. In this case, the patient complained of left knee pain after x-ray films revealed a fracture-like line in the left patella. The patient was then diagnosed as having a patella fracture. In China, the injury degree is categorized as serious injury, minor injury, and trivial injury. As the injury degree of patellar fracture is identified as minor injury, the defendant who injured the patient will be sentenced to prison for ≤3 years. However, the defendant objected to this judgment and applied for the second evaluation of injury degree. On the basis of the site of injury, clinical manifestations, and imaging findings, we diagnosed the patient with bipartite patella which belongs to normal anatomic variant. Therefore, the injury degree of the patient was not minor injury. © 2017 American Academy of Forensic Sciences.

Fat embolism syndrome after nailing an isolated open tibial fracture in a stable patient: a case report.

PubMed

Aparicio, Gustavo; Soler, Isabel; López-Durán, Luis

2014-04-14

Fat embolism syndrome is a potentially fatal complication of long bone fractures. It is usually seen in the context of polytrauma or a femoral fracture. There are few reports of fat embolism syndrome occurring after isolated long bone fractures other than those of the femur. We describe a case of fat embolism syndrome in a 33-year-old Caucasian man. He was being seen for an isolated Gustilo's grade II open tibial fracture. He was deemed clinically stable, so we proceeded to treat the fracture with intramedullary reamed nailing. He developed fat embolism syndrome intraoperatively and was treated successfully. This case caused us to question the use of injury severity scoring for isolated long bone fractures. It suggests that parameters that have been described in the literature other than that the patient is apparently clinically stable should be used to establish the best time for nailing a long bone fracture, thereby improving patient safety.

Fat embolism syndrome after nailing an isolated open tibial fracture in a stable patient: a case report

PubMed Central

2014-01-01

Background Fat embolism syndrome is a potentially fatal complication of long bone fractures. It is usually seen in the context of polytrauma or a femoral fracture. There are few reports of fat embolism syndrome occurring after isolated long bone fractures other than those of the femur. Case presentation We describe a case of fat embolism syndrome in a 33-year-old Caucasian man. He was being seen for an isolated Gustilo’s grade II open tibial fracture. He was deemed clinically stable, so we proceeded to treat the fracture with intramedullary reamed nailing. He developed fat embolism syndrome intraoperatively and was treated successfully. Conclusion This case caused us to question the use of injury severity scoring for isolated long bone fractures. It suggests that parameters that have been described in the literature other than that the patient is apparently clinically stable should be used to establish the best time for nailing a long bone fracture, thereby improving patient safety. PMID:24731759

Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: a review.

PubMed

Lynch, Henry T; Drescher, Kristen; Knezetic, Joseph; Lanspa, Stephen

2014-09-01

Molecular genetic pathways that drive the phenotypic and genotypic heterogeneity of hereditary colorectal cancer also can affect response to chemotherapy and chemoprevention. These mutations also can alter patients' response to therapy. Environmental differences can affect this highly complex conundrum. We will use Lynch syndrome as a model to explore this issue. However, to begin with, after more than a century of documentation, we must ask what is meant by the eponym "Lynch syndrome". Germline mutations may act as drivers of chemoprevention and chemotherapy and therein may act positively or conversely they may have a negative effect in terms of inhibiting the inactivation of cancer-causing germline mutations. A relatively new field of hereditary cancer therapeutics has significantly impacted cancer care, from the standpoint of the sensitivity or resistance to a particular form of chemotherapy and/or chemoprevention. The question for the diagnostician and therapist must always concern what is the best possible management approach for the patient, particularly when he or she harbors a cancer-causing germline mutation, which, in this case, causes Lynch syndrome. Continued molecular genetic research might yield a more tailored effective treatment for Lynch syndrome. The ultimate goal of such hereditary oncologic research is to better understand the mutation's therapeutic task, namely, its potential to benefit the patient in terms of its treatment goal, thereby fulfilling the essence of personalized medicine. However, this goal may be exceedingly complicated. For example, in the natural clinical and molecular genetic history of hereditary forms of cancer, there will be a predominance of early-onset cancers of multiple anatomic sites. In our Lynch syndrome model, these will be most commonly colorectal, endometrial, and ovarian cancer. Attention must initially be focused upon cancer's early age of onset coupled with the tendency to multiple primary cancers so that, in

Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).

PubMed

Radetskaya, L S; Makatsariya, A D; Bitsadze, V O; Khizroeva, J K

2018-07-01

The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. The pathogenesis of mesenchymal dysplasias is not currently well understood. For the patients with mesenchymal dysplasias pregnancy is fraught with high risk of life-threatening complications. The preferred delivery method for such patients is caesarean section.

Genetics Home Reference: nail-patella syndrome

MedlinePlus

... protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be particularly ...

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PubMed

Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

2017-04-01

Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

Treating patella fractures with a fixed-angle patella plate-A prospective observational study.

PubMed

Wild, Michael; Fischer, Kai; Hilsenbeck, Florian; Hakimi, Mohssen; Betsch, Marcel

2016-08-01

Anterior tension wiring using Kirschner wires (K-wires) is still considered the standard treatment for patella fractures, despite its high complication rate. The objective of this prospective clinical study was to evaluate intra- and perioperative complications as well as the clinical outcome of patients with patella fracture treated with a new developed bilateral, polyaxial, fixed-angle 2.7mm patella plate. Between 2011 and 2014 all patients with a patella fracture were included in this prospective study and treated with a fixed-angle patella plate. Avulsion fractures of the inferior or superior pole of the patella were excluded. All fractures were classified according to the AO/OTA fracture classification. During a twelve-month follow up period all intra- and postoperative complications were recorded as well as the time until fracture healing. One year postoperatively the Lysholm Score, the pre- and postoperative Tegner Score, the Hospital for Special Surgery Knee Score (HSS), the Turba Score, the Oxford Knee Score, the Knee injury and Osteoarthritis Outcome Score (KOOS), the Bostman Score and the Iowa Knee Score were surveyed. Altogether, 20 patella fractures in 19 patients were included in this prospective study. The most frequent type of fracture, n=10, was a simple transverse patella fracture (C1), followed by 7 comminuted patella fractures (C3) and 3 T-shaped patella fractures (C2). During the 12-month follow up period two patients treated with the patella plate had a complication. In one patient a superficial wound infection occurred, which was treated successfully with hardware removal and in one patient a fracture dislocation due to an implant failure occurred. X-rays demonstrated complete bony healing in all fractures on average 3.2 months postoperatively. All knee scores showed good to excellent clinical results one year postoperatively. The results of this first clinical study indicate that the fixed-angle patella plate is an effective and safe

A Danish family with dominant deafness-onychodystrophy syndrome.

PubMed

Vind-Kezunovic, Dina; Torring, Pernille M

2013-01-01

The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown. We present here three male family members in three generations with sensori-neural deafness, onychodystrophy and brachydactyly inherited via autosomal dominant transmission. The family members presented with absent fingernails on the first and fifth digits. As to the feet, there were absent nails on second to fifth toes in two family members, whereas the third family member only had absent nails on the fifth toe. The proband had late dentition and his father a history of late dentition, but otherwise the teeth appeared normal. Comparative genomic hybridization array analysis (Agilent 400k oligoarray) of the proband did not detect any copy number variation. This Danish family fits within the spectrum of dominant deafness and onychodystrophy syndrome and further characterises this rare disorder.

Hereditary Hearing Loss.

ERIC Educational Resources Information Center

Tran, LenhAnh P.; Grundfast, Kenneth M.

1997-01-01

This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders

PubMed Central

Boulet, Cedric; Madani, Hardi; Lenchik, Leon; Vanhoenacker, Filip; Amalnath, Deepak S; de Mey, Johan

2016-01-01

There is a wide variety of hereditary and non-hereditary bone dysplasias, many with unique radiographic findings. Hereditary bony dysplasias include osteopoikilosis, osteopathia striata, osteopetrosis, progressive diaphyseal dysplasia, hereditary multiple diaphyseal sclerosis and pyknodysostosis. Non-hereditary dysplasias include melorheostosis, intramedullary osteosclerosis and overlap syndromes. Although many of these dysplasias are uncommon, radiologists should be familiar with their genetic, clinical and imaging findings to allow for differentiation from acquired causes of bony sclerosis. We present an overview of hereditary and non-hereditary bony dysplasias with focus on the pathogenesis, clinical and radiographic findings of each disorder. PMID:26898950

A case report of Gorlin–Goltz syndrome as a rare hereditary disorder

PubMed Central

Sirous, Mehri; Tayari, Nazila

2011-01-01

Gorlin–Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin–Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and mandible over 5 years. The pain was diffuse and compatible with expansile cyst in alveolar ridges on panoramic radiography. In physical examination, he had coarse face and prognathism. Computer tomography of face revealed two expansile maxillary and one mandibular cyst. Calcification of entire length in falx and tentorium were detected in bone window. PMID:22091315

A case report of Gorlin-Goltz syndrome as a rare hereditary disorder.

PubMed

Sirous, Mehri; Tayari, Nazila

2011-06-01

Gorlin-Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin-Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and mandible over 5 years. The pain was diffuse and compatible with expansile cyst in alveolar ridges on panoramic radiography. In physical examination, he had coarse face and prognathism. Computer tomography of face revealed two expansile maxillary and one mandibular cyst. Calcification of entire length in falx and tentorium were detected in bone window.

Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

PubMed

Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

2011-08-01

Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer

PubMed Central

Carethers, John M; Stoffel, Elena M

2015-01-01

Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management. PMID:26309352

Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.

PubMed

Carethers, John M; Stoffel, Elena M

2015-08-21

Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management.

Semiextended approach for intramedullary nailing via a patellar eversion technique for tibial-shaft fractures: Evaluation of the patellofemoral joint.

PubMed

Yasuda, Tomohiro; Obara, Shu; Hayashi, Junji; Arai, Masayuki; Sato, Kaoru

2017-06-01

Intramedullary nail fixation is a common treatment for tibial-shaft fractures, and it offers a better functional prognosis than other conservative treatments. Currently, the primary approach employed during intramedullary nail insertion is the semiextended position is the suprapatellar approach, which involves a vertical incision of the quadriceps tendon Damage to the patellofemoral joint cartilage has been highlighted as a drawback associated with this approach. To avoid this issue, we perform surgery using the patellar eversion technique and a soft sleeve. This method allows the articular surface to be monitored during intramedullary nail insertion. We arthroscopically assessed the effect of this technique on patellofemoral joint cartilage. The patellar eversion technique allows a direct view and protection of the patellofemoral joint without affecting the patella. Thus, damage to the patellofemoral joint cartilage can be avoided. Copyright © 2017 Elsevier Ltd. All rights reserved.

Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes.

PubMed

Márquez, Manlio F; Cruz-Robles, David; Ines-Real, Selene; Vargas-Alarcón, Gilberto; Cárdenas, Manuel

2015-01-01

Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

[Comparison of therapeutic effects between patella replacement and patella osteotomy in total knee arthroplasty: a case-control study].

PubMed

Tang, Xiao-Bo; Dong, Pei-Long; Wang, Jian

2014-04-01

To compare therapeutic effects between patella replacement and patella osteotomy in total knee arthroplasty. From April 2004 to April 2011, 52 patients (54 knees) were enrolled in the clinical trail of total knee arthroplasty, who received patella replacement (24 knees, including 13 males and 11 females,ranging in age from 53 to 78 years old or patella osteotomy (30 knees,including 16 males and 12 females,ranging in age from 55 to 79 years old. The average follow-up period was 56 months,ranging from 20 to 80 months. The American HSS Score for knee, the Feller score for patella, range of motion (ROM) for knee, patient satisfaction and complications related to the patella were used to evaluate therapeutic effects. In the patella replacement group,the preoperative and final follow-up HSS scores of patients were 38.4 +/- 8.2 and 91.2 +/- 8.6 respectively; Feller scores were 13.6 +/- 6.2 and 25.2 +/- 4.2; scores of anterior knee pain were 3.9 +/- 3.2 and 11.2 +/- 3.7; ROM were (78 +/- 26) degrees and(108 +/- 18) degrees. In the patella osteotomy group,the preoperative and final follow-up HSS scores of patients were 39.5 +/- 8.4 and 91.0 +/- 8.5 respectively;Feller scores were 13.4 +/- 6.5 and 25.6 +/- 4.0; scores of anterior knee pain were 3.7 +/- 3.1 and 11.3 +/- 3.6; ROM were (76 +/- 27) degrees and (110 +/- 19) degrees. In the patella replacement group,patient's satisfaction was 91%, and complication related to the patella was 16.7%; in the patella osteotomy group, patient's satisfaction was 89%, and complications related to the patella was 10.0%. There were no statistically significant differeneces in final follow-up HSS scores, Feller scores, scores of anterior knee pain and ROM between the two groups. However,there was no significant difference of patient's satisfaction between them. There was statistically significant differenece of patella-related complications between the two groups, and the complication rate in the patella replacement group was higher than

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.

PubMed

Devos, David; Vuillaume, Isabelle; de Becdelievre, Alix; de Martinville, Berengère; Dhaenens, Claire-Marie; Cuvellier, Jean-Christophe; Cuisset, Jean-Marie; Vallée, Louis; Lemaitre, Marie-Pierre; Bourteel, Hélène; Hachulla, Eric; Wallaert, Benoit; Destée, Alain; Defebvre, Luc; Sablonnière, Bernard

2006-12-01

Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea. Copyright 2006 Movement Disorder Society.

Genetic Testing for Hereditary Colorectal Cancer

MedlinePlus

... Submit Button Past Emails March 22nd is National Lynch Syndrome Awareness Day! Language: English (US) Español (Spanish) Recommend ... sure to tell your family members. What is Lynch Syndrome? Lynch syndrome is a hereditary cancer syndrome, meaning ...

Developmental anomaly of ossification type patella partita.

PubMed

Oohashi, Yoshikazu

2015-04-01

Bipartite patella has been recognized as an incidental radiographic finding. However, symptomatic bipartite patella is occasionally diagnosed in adolescents and young athletes. The incidence of bipartite patella has been reported at 0.2-1.7, and 1-2 % of these cases are symptomatic. The purpose of this review article was to discuss current concepts relevant to developmental anomaly of ossification type patella partita. A PubMed database search using the key words "bipartite patella" was performed. Clinical papers reporting the bipartite patella were included. Four German-language studies were also included, three for incidence of bipartite patella and one for classification. A new classification of developmental anomaly of ossification type patella partita based on location and number of fragment was recently proposed. It is simple and useful and applicable to all types of bipartite or tripartite patella. Several imaging studies have reportedly been used to evaluate symptomatic bipartite patella. MRI is currently the most appropriate method used to assess patients with bipartite patella. Although surgical procedures have been developed that reduce excessive traction force by the vastus lateralis muscle on the bipartite fragment, there is not sufficient evidence to support their use for routine treatment of painful bipartite patella. In most symptomatic cases, movement at the interface between the bipartite fragment and the body of the patella presumably causes the pain. Therefore, the existence of apparent motion at the interface should be confirmed by specific imaging studies before surgery. Magnetic resonance imaging findings may provide such evidence by demonstrating a fluid bright signal across the segmentation, typical of pseudoarthrosis. V.

Habitual dislocation of patella: A review

PubMed Central

Batra, Sumit; Arora, Sumit

2014-01-01

Habitual dislocation of patella is a condition where the patella dislocates whenever the knee is flexed and spontaneously relocates with extension of the knee. It is also termed as obligatory dislocation as the patella dislocates completely with each flexion and extension cycle of the knee and the patient has no control over the patella dislocating as he or she moves the knee1. It usually presents after the child starts to walk, and is often well tolerated in children, if it is not painful. However it may present in childhood with dysfunction and instability. Very little literature is available on habitual dislocation of patella as most of the studies have combined cases of recurrent dislocation with habitual dislocation. Many different surgical techniques have been described in the literature for the treatment of habitual dislocation of patella. No single procedure is fully effective in the surgical treatment of habitual dislocation of patella and a combination of procedures is recommended. PMID:25983506

Comparison of titanium cable tension band and nickel-titanium patella concentrator for patella fractures.

PubMed

Zhao, Quan-Ming; Gu, Xiao-Feng; Cheng, Li; Feng, De-Hong

2017-07-01

Patellar fractures account for approximately 1% of all fractures. Due to the patella's importance as regards the extensor mechanism, effort should be made to preserve the patella. Several operative treatment methods have been introduced for patella fractures. This study aims to compare the clinical effect of a titanium cable tension band and nickeltitanium (NiTi) patella concentrator (NT-PC) in treating patella fractures. Thirty-nine patients with patella fractures were enrolled in this retrospective study. All the patients were treated via the open reduction internal fixation procedure using a titanium cable tension band or NT-PC. All the patients were followed up over an average period of 13 months. The main outcome measures were operation time, time of fracture union, postoperative complications, and Böstman knee scores. Statistical analyses were conducted between the 2 groups. All the patients were operated on successfully. The operation time of the NT-PC treatment group was less than that of the titanium cable tension band treatment group (p < 0.05). The mean scores at the final follow-up were 28.2 and 27.6 points in the titanium cable tension band and NT-PC groups, respectively. No significant difference was observed between the excellent and good results (p > 0.05). Both titanium cable tension band and NT-PC showed good efficacy for the treatment of patellar fractures. NT-PC fixation, a new option for the treatment of patella fractures, is a simple and effective fixation method.

[Paediatric retinal detachment and hereditary vitreoretinal disorders].

PubMed

Meier, P

2013-09-01

The number of retinal detachments in children is very low in comparison to the number in adults. One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Knobloch syndrome, incontinentia pigmenti, Norrie disease). Hereditary vitreoretinopathies are characterised by an abnormal-appearing vitreous gel with associated retinal changes. In most of these eyes further ocular abnormalities can be diagnosed. A group of hereditary disorders is associated with characteristic systemic abnormalities. Allied conditions should be considered in the clinical diagnosis. Vitreoretinopathies are the most common cause of inherited retinal detachment. In most eyes primary vitrectomy is necessary, and disease-specific surgical treatment is discussed. Georg Thieme Verlag KG Stuttgart · New York.

The problem of chondromalacia patellae.

PubMed

Outerbridge, R E; Dunlop, J A

1975-01-01

Daily activity subjects the human patella to forces often several times the individual's body weight. Healthy cartilage can adjust to these forces if they are not too excessive, concentrated, or repetitive. Such abnormal stresses most frequently occur with the disturbance of normal patellar mechanical function. Chondromalacia patellae is the result common to a wide variety of unusual traumata. Treatment must be directed primarily not toward the damaged patellar cartilage but toward a correction of the mechanical abnormality causing it. Until proven otherwise, a young female complaining of knee joint pain, particularly if bilateral, should be considered as suffering from a subluxating patella, with or without chondromalacia patellae.

Genetics Home Reference: hereditary hemorrhagic telangiectasia

MedlinePlus

... Central OMIM: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic ... 10.1097/GIM.0b013e3182136d32. Review. Citation on PubMed McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead ...

Patella fractures associated with accelerated ACL rehabilitation in patients with autogenous patella tendon reconstructions.

PubMed

Brownstein, B; Bronner, S

1997-09-01

Patella fracture is a recognized complication of ACL reconstruction with an autogenous patella tendon graft. Typically, fracture occurs as a result of a fall. The incidence of fracture is approximately 0.5%. Accelerated rehabilitation protocols can place stress on the patella, especially in the initial stages of recovery. Therapists are reminded to observe constraints placed on patients by biological tissues, recovering neuromuscular status, and previous level of conditioning. Rehabilitation protocols should be revised according to these factors.

Identification of Patients at Risk for Hereditary Colorectal Cancer

PubMed Central

Mishra, Nitin; Hall, Jason

2012-01-01

Diagnosis of hereditary colorectal cancer syndromes requires clinical suspicion and knowledge of such syndromes. Lynch syndrome is the most common cause of hereditary colorectal cancer. Other less common causes include familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome, and others. There have been a growing number of clinical and molecular tools used to screen and test at risk individuals. Screening tools include diagnostic clinical criteria, family history, genetic prediction models, and tumor testing. Patients who are high risk based on screening should be referred for genetic testing. PMID:23730221

Telangiectatic osteosarcoma of the patella.

PubMed

Shehadeh, Ahmad M; Haiba, Moutaz A; Henshaw, Robert M; Lack, Ernest

2008-08-01

Although osteosarcoma is the most common primary malignancy of bone, it has only been reported to arise from the patella in a handful of cases. Telangiectatic osteosarcoma accounts for <5% of all osteosarcomas, and it is distinguished histologically by spaces, often blood filled, separated by septa containing highly malignant cells and radiographically by a predominately lytic and/or expansile component. Telangiectatic osteosarcoma can be radiologically confused with aneurysmal bone cyst or giant cell tumor. A 22-year-old otherwise healthy man presented with increasing pain, swelling, and limited flexion of the right knee after failing physical therapy for anterior knee pain. Standard anteroposterior and lateral radiographs demonstrated a diffuse destructive process involving the majority of the patella (including loss of the inferior patellar cortex) and a lytic lesion of the proximal tibia. Apparent osteoid matrix was visible in the soft tissue extension along the inferior pole of the patella. A computed tomography scan of the chest showed 2 pulmonary nodules consistent with metastatic disease. Evaluation of core needle biopsy showed osteosarcoma with telangiectatic features. Given that the majority of the tumor involved the patella/extensor mechanism, it was clear that the tumor originated in the patella. This case presents the first published report of a telangiectatic osteosarcoma arising from the patella.

Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

PubMed

Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

2017-06-01

Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions.

PubMed

Kravochuck, Sara E; Church, James M

2017-12-01

Hereditary non-polyposis colorectal cancer (HNPCC) is defined by family history, and Lynch syndrome (LS) is defined genetically. However, universal tumour testing is now increasingly used to screen for patients with defective mismatch repair. This mixing of the results of family history, tumour testing and germline testing produces multiple permutations and combinations that can foster confusion. We wanted to clarify hereditary colorectal cancer using the three dimensions of classification: family history, tumour testing and germline testing. Family history (Amsterdam I or II criteria versus not Amsterdam criteria) was used to define patients and families with HNPCC. Tumour testing and germline testing were then performed to sub-classify patients and families. The permutations of these classifications are applied to our registry. There were 234 HNPCC families: 129 had LS of which 55 were three-dimensional Lynch (family history, tumour testing and germline testing), 66 were two-dimensional Lynch and eight were one-dimensional Lynch. A total of 10 families had tumour Lynch (tumours with microsatellite instability or loss of expression of a mismatch repair protein but an Amsterdam-negative family and negative germline testing), five were Lynch like (Amsterdam-positive family, tumours with microsatellite instability or loss of expression of a mismatch repair protein on immunohistochemistry but negative germline testing), 26 were familial colorectal cancer type X and 95 were HNPCC. Hereditary colorectal cancer can be confusing. Sorting families in three dimensions can clarify the confusion and may direct further testing and, ultimately, surveillance. © 2016 Royal Australasian College of Surgeons.

Nail cosmetics.

PubMed

Madnani, Nina A; Khan, Kaleem J

2012-01-01

The nail as an anatomic structure protects the terminal phalanx of the digit from injury. Historically, it has served as a tool for protection and for survival. As civilizations developed, it attained the additional function of adornment. Nail beautification is a big industry today, with various nail cosmetics available, ranging from nail hardeners, polishes, extensions, artificial/sculpted nails, and nail decorations. Adverse events may occur either during the nail-grooming procedure or as a reaction to the individual components of the nail cosmetics. This holds true for both the client and the nail technician. Typically, any of the procedures involves several steps and a series of products. Separate "nail-bars" have been set up dedicated to serve women and men interested in nail beautification. This article attempts to comprehensively inform and educate the dermatologist on the services offered, the products used, and the possible/potential adverse effects related to nail-grooming and nail cosmetics.

Plating of patella fractures: techniques and outcomes.

PubMed

Taylor, Benjamin C; Mehta, Sanjay; Castaneda, Joaquin; French, Bruce G; Blanchard, Chris

2014-09-01

Operative treatment of displaced patella fractures with tension band fixation remains the gold standard, but is associated with a significant rate of complications and symptomatic implants. Despite the evolution of tension band fixation to include cannulated screws, surprisingly little other development has been made to improve overall patient outcomes. In this article, we present the techniques and outcomes of patella plating for displaced patella fractures and patella nonunions.

[Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China].

PubMed

2018-01-23

Hereditary colorectal cancer can be divded into two categories based on the presence or absence of polyps. The first category is characterized by the development of polyposis, which includes familial adenomatous polyposis (FAP); The second category is nonpolyposis colorectal cancer, which is represented by Lynch syndrome. "Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China" developed by the Genetics Group of the Committee of Colorectal Cancer, Chinese Anti-cancer Association, is composed of three sections, including hereditary nonpolyposis syndrome, polyposis syndrome as well as genetic evaluation of hereditary colorectal cancer. The consensus aims to provide recommendations on management of the respective hereditary syndromes in terms of definition, clinical and pathological features, diagnostic standards, treatment, and follow-ups. In addition to describing diagnostic and treatment strategies, prophylactic treatment as well as genetic screening and pedigree monitoring is highly recommended. Through the establishment of this expert consensus, we hope to promote better understanding of hereditary colorectal cancer for clinicians and encourage standardized treatment through multidisciplinery approaches, eventually improving clinical treatment and pedigree management of hereditary colorectal cancer in China.

Joint hypermobility in patients with chondromalacia patellae.

PubMed

al-Rawi, Z; Nessan, A H

1997-12-01

The relationship between joint mobility and chondromalacia patellae was reported in a prospective study. A total of 115 patients with chondromalacia patellae were compared with 110 healthy individuals without chondromalacia patellae, matched for age and sex, who served as a control group. The degree of joint mobility was scored on a scale of 0-9. The number of individuals with hypermobile joints and the total mobility scores were significantly higher in patients with chondromalacia patellae when compared to the control group (P < 0.001). There were more hypermobile knees among knee joints with chondromalacia patellae when compared with the knees of the control group (P < 0.01). Chondromalacia patellae were bilateral in 57% of our patients. It occurred more frequently in the longer leg and was associated with quadriceps muscle wasting in 50% of patients. Flat feet and backache were reported significantly more often in patients compared with the control group (P < 0.05). It is concluded that hypermobility of the knee joint may be a contributing factor in the pathogenesis of chondromalacia patellae.

Prediction of a nail polish colour applied on a nail.

PubMed

Monpeurt, C; Cinotti, E; Razafindrakoto, J; Rubegni, P; Fimiani, M; Perrot, J L; Hebert, M

2018-02-01

The colour of a nail polish varies according to the nail on which it is applied. The objective of this study was to predict the colour of the nail polish on a given nail and to study how the colour varies depending on the nail polish thickness. Six nail polishes were applied in one, two and three layers on the nails of one subject, thus forming eighteen samples. The spectral reflectances of the eighteen nail polishes applied on the nails with different thicknesses were obtained by spectrophotometry. The spectral reflectances of the nails without polish were also measured using the same technique. The thicknesses of nail polishes were measured by high-definition optical coherence tomography (HD-OCT). Then, to determine the physical parameters of the nail polish itself, we applied the six nail polishes on an opacity drawdown chart and we measured the spectral reflectance and the thickness of each patch using spectrophotometry and HD-OCT, respectively. The Kubelka-Munk theory was used to get the predicted spectral reflectance of the nail polish applied on the nail according to the polish thickness by knowing the parameter of the polish itself and the spectral reflectance of the nail. The predicted spectral reflectances were finally compared with those measured directly on the nails. The predicted spectral reflectances were rather close to measured ones. Consequently, knowing the colour of the nail without polish and the optical parameters of the nail polish itself, we can estimate the colour of the nail polish applied on the nail depending on its thickness. Our study showed that the Kubelka-Munk theory can be used to predict the nail polish colour. The ability to predict the real colour of a nail polish applied on a nail could help a nail polish manufacturer to improve his polish formulae in order to obtain a precise colour. © 2017 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

A case of concomitant Gilbert's syndrome and hereditary spherocytosis

PubMed Central

Lee, Hee Jung; Moon, Hee Seok; Lee, Eaum Seok; Kim, Seok Hyun; Sung, Jae Kyu; Lee, Byung Seok; Jeong, Hyun Yong; Eu, Young Jae

2010-01-01

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene. PMID:20924216

DNA repair and tumorigenesis: lessons from hereditary cancer syndromes.

PubMed

Heinen, Christopher D; Schmutte, Christoph; Fishel, Richard

2002-01-01

The discovery that alterations of the DNA mismatch repair system (MMR) were linked to the common human cancer susceptibility syndrome hereditary nonpolyposis colon cancer (HNPCC) resulted in the declaration of a third class of genes involved in tumor development. In addition to oncogenes and tumor suppressors, alterations of DNA repair genes involved in maintaining genomic stability were found to be a clear cause of tum the level of the single nucleotides or chromosomes. This observation suggested that the establishment of genomic instability, termed the Mutator Phenotype, was an important aspect of tumor development.(1,2) Since the initial identification of the human MutS homolog hMSH2 nearly a decade ago,(3,4) more links have been described between human cancers and genes involved in maintaining genomic stability. Work in recent years has revealed that DNA repair proteins may also function in signaling pathways that provoke cell cycle arrest and apoptosis. This review will focus on the genetic and biochemical functions of DNA repair genes linked to hereditary cancer predisposition characterized by genomic instability (Table 1). Interestingly, the protein products of these genes have been directly or indirectly linked to the DNA damage-induce cell cycle arrest and apoptosis. We conclude that a robust connection between DNA repair proteins and damage-induced apoptosis may be as important for tumorigenesis as their role in maintaining genome stability.

[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

PubMed

Espinós, C; Pérez-Garrigues, H; Beneyto, M; Vilela, C; Rodrigo, O; Nájera, C

1999-01-01

Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by congenital bilateral sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa (RP). The prevalence of Usher syndrome is estimated to be 3-4.4 cases per 100.000 people. Several clinical types have been distinguished by age at onset, rate of progression, and severity of symptoms. Type I (USH1) is characterized by a congenital, severe-to-profound deafness and absent vestibular function. Type II (USH2) shows a congenital and moderate-to-severe hearing loss and normal vestibular response. It is also suggested a third type (USH3), clinically similar to USH2, but with progressive hearing loss. Genetic heterogeneity of USH is quite extensive. Up to now, seven different loci responsible for the defect are known: 14q, 11q, 11p, 10q and 21q for USH1; 1q for USH2 and 3q for USH3. Moreover, there are USH1 and USH2 families that fail to show linkage to these candidate regions demonstrating that should exist other loci causing USH, although their ubications are unknown. To date, only two genes involved in the USH pathology are known, although together they are responsibles of about the 80% of total USH cases: myosin VIIA, an unconventional myosin, involved in the USH1b phenotype and a protein similar to the laminina, responsible for the USH2a phenotype.

Nail abnormalities

MedlinePlus

... appearance of the thumbnails. Long-term exposure to moisture or nail polish can cause nails to peel ... nail, if your nails are constantly exposed to moisture, or whether you are always picking at your ...

Anterior cruciate ligament deterioration correlates with patella osteoarthritis.

PubMed

Iriuchishima, Takanori; Ryu, Keinosuke; Aizawa, Shin; Yorifuji, Hiroshi; Ohyama, Tetsuji; Fu, Freddie H

2014-04-01

The correlation between anterior cruciate ligament (ACL) condition and patella osteoarthritic (OA) changes has not been well reported. The aim of this study was to reveal the correlation between ACL deterioration and the morphology of OA changes in the patella. The hypothesis was that significant correlation between ACL deterioration and patella OA morphology would be revealed in this study. Two hundred ninety-one cadaveric knees from 151 cadavers were included in this study with a median age of 83 years (54-98). Knees were opened with a sub-vastus approach and the ACL condition was classified as intact or deteriorated. Patella OA lesions were classified using Han's method: type 1, no or minimal lesion; type 2, medial facet lesion without involvement of the ridge; type 3, lateral facet lesion without involvement of the ridge; type 4, lesion involving the ridge only; type 5, medial facet lesion with involvement of the ridge; type 6, lateral facet lesion with involvement of the ridge; and type 7, global lesion. OA depth evaluation was performed following Outerbridge's classification. Statistical analysis of the collected data was performed using generalized estimating equations (GEE). The ACL was intact in 277 knees and deteriorated in 14 knees. Patella OA lesions were observed as follows: type 1, 29%; type 2, 15%; type 3, 2%; type 4, 12%; type 5, 18%; type 6, 2%; and type 7, 22%. Outerbridge's classification of over grade 2 OA depth was observed in 73.5% of subjects. When patella OA was divided into types 1-4 and types 5-7, ACL deterioration was correlated with the occurrence of type 5-7 patella OA [OR 6.44, 95%CI 2.27-18.25, p = 0.000]. When patella OA was divided into types 1-6 and type 7, ACL deterioration was correlated with the occurrence of type 7 patella OA [OR 6.02, 95%CI 2.57-14.09, p = 0.000]. When patella OA depth was divided into grades 1-3 and grade 4, ACL deterioration was highly correlated with the occurrence of grade 4 patella OA [OR 9.31, 95

Transverse Stress Fracture of the Proximal Patella

PubMed Central

Atsumi, Satoru; Arai, Yuji; Kato, Ko; Nishimura, Akinobu; Nakazora, Shigeto; Nakagawa, Shuji; Ikoma, Kazuya; Fujiwara, Hiroyoshi; Sudo, Akihiro; Kubo, Toshikazu

2016-01-01

Abstract Among stress fractures associated with sports activities, patellar stress fracture is rare. Regarding patella stress fractures, so far only distal transverse or lateral longitudinal fractures have been reported, but there are no reports of transverse fractures occurring in the proximal patella. We describe an extremely rare case of transverse stress fracture of proximal patella in a 9-year-old athlete. A 9-year old boy, who participated in sports (sprints and Kendo) presented with left knee pain without any external injury. In plain radiographs, a fracture line was observed in the proximal 1/3 of the left patella, and a patella stress fracture was diagnosed. For treatment, because 7 months of conservative therapy showed no improvement, internal fixation was carried out using Acutrak screws, and bone union was thus achieved. Three months after the operation, he was able to return to his previous level of athletic sports activity. Regarding the mechanism of onset, it is believed that the causes are longitudinal traction force and patellofemoral contact pressure. On the other hand, the contact region of the patella with the femur changes with the flexion angle of the knee. In the current case, the fracture occurred at a site where the patella was in contact with the femur at a flexion angle of >90°, so it is believed that it occurred as a clinical condition from being subjected to repeated longitudinal traction force and patellofemoral contact pressure at a flexion angle of >90°, during the sports activities of sprints and Kendo. The nonunion of the transverse stress fracture of his proximal patella was successfully treated with internal fixation using Acutrak screws. PMID:26871789

Stress analysis in patella by three-dimensional photoelasticity

NASA Astrophysics Data System (ADS)

Chen, Riqi; Zhang, Jianxing; Jiang, Kunsheng

1991-12-01

In this paper, stress distribution in patella was studied by 3-D photoelastic experiments and finite element calculations. The experimental conditions were in good agreement with that of body mechanics: (1) The ratios of m. quadriceps femoris force FQ to lig. patella force FP were 1.03 - 1.42. (2) The angles between FQ and FP were 8.4 degree(s) - 18.7 degree(s). (3) The ratio of modulus of elasticity for epoxy resin and silicon rubber matched that for patella and cartilage, i.e., 145:1. The principal stresses and their path line, normal stresses, and contact stresses between patella and ossis femoris were determined in various flexion angles (15 degree(s), 30 degree(s), 45 degree(s), 60 degree(s), 75 degree(s), 90 degree(s)). Two of the correlations were: (1) Maximum principal stress in the front of patella; (sigma) max equals 35.8Wexp(0.024(alpha) ) KPa. (2) Maximum contact stress between patella and ossis femoris; (sigma) max equals -(6.86 - 0.14(alpha) + 0.02(alpha) 2)W KPa where W was body weight subjected by a single foot. It was proved that the transverse break of patella resulted from the case that the principle stress in the front of patella exceeded ultimate tensile strength. And Tension Band Wiring (TBW) therapy conformed to the law of physiological stress field. A modified K-needles position in TBW therapy was suggested. These results are useful for further research of human patella mechanics and recovery therapy. No similar result has been found in American MEDLIN Data Bank.

Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries

PubMed Central

Chen, Erbao; Xu, Xiaojing

2018-01-01

Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies and extracolonic malignancies. HNPCC encompasses several cancer syndromes, such as Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X, which have remarkable clinical presentations and overlapping genetic profiles that make clinical diagnosis a challenging task. Therefore, distinguishing between the HNPCC disorders is crucial for physicians as an approach to tailor different recommendations for patients and their at-risk family members according to the risks for colonic and extracolonic cancer associated with each syndrome. Identification of these potential patients through epidemiological characteristics and new genetic testing can estimate the individual risk, which informs appropriate cancer screening, surveillance, and/or treatment strategies. In the past three years, many appealing and important advances have been made in our understanding of the relationship between HNPCC and CRC-associated syndromes. The knowledge from the genetic profile of cancer syndromes and unique genotype-phenotype profiles in the different syndromes has changed our cognition. Therefore, this review presents and discusses HNPCC and several common nonpolyposis syndromes with respect to molecular phenotype, histopathologic features, and clinical presentation. PMID:29849630

Partial double-layered patella in a nondysplasic adolescent.

PubMed

García-Mata, Serafín; Hidalgo-Ovejero, Angel

2016-11-01

Double-layered patella (DLP) is a rare patella-formation abnormality reported in association with multiple epiphyseal dysplasia. DLP is one of the five types of bipartite patella, caused by a coronal septum that divides the patella into anterior and posterior segments. Although the double layer of bone has been reported as complete, it may also manifest as partial, as in our case. A 13-year-old male patient attended A&E after accidentally falling and sustaining a direct injury to his left knee, with pain in the anterior surface of the right patella. He was diagnosed with an incomplete vertical fracture of the left patella. An axial view radiography indicated an external partial DLP. No bone dysplasia was found. Computed tomographic scan and MRI showed partial DLP and bone marrow oedema because of the injury in the femoral condyle, but no fracture. The reason for highlighting this type of patella abnormality is to present the case of a patient without bone dysplasia, either partial or incomplete, that has not been reported previously. We also wish to emphasize the importance of not confusing it with a fracture in standard radiographies.

Accelerated geroncogenesis in hereditary breast-ovarian cancer syndrome

PubMed Central

Menendez, Javier A.; Folguera-Blasco, Núria; Cuyàs, Elisabet; Fernández-Arroyo, Salvador; Joven, Jorge; Alarcón, Tomás

2016-01-01

The geroncogenesis hypothesis postulates that the decline in metabolic cellular health that occurs naturally with aging drives a “field effect” predisposing normal tissues for cancer development. We propose that mutations in the cancer susceptibility genes BRCA1/2 might trigger “accelerated geroncogenesis” in breast and ovarian epithelia. By speeding up the rate at which the metabolic threshold becomes “permissive” with survival and expansion of genomically unstable pre-tumoral epithelial cells, BRCA haploinsufficiency-driven metabolic reprogramming would operate as a bona fide oncogenic event enabling malignant transformation and tumor formation in BRCA carriers. The metabolic facet of BRCA1 one-hit might involve tissue-specific alterations in acetyl-CoA, α-ketoglutarate, NAD+, FAD, or S-adenosylmethionine, critical factors for de/methylation or de/acetylation dynamics in the nuclear epigenome. This in turn might induce faulty epigenetic reprogramming at the “install phase” that directs cell-specific differentiation of breast/ovarian epithelial cells, which can ultimately determine the penetrance of BRCA defects during developmental windows of susceptibility. This model offers a framework to study whether metabolic drugs that prevent or revert metabolic reprogramming induced by BRCA haploinsufficiency might displace the “geroncogenic risk” of BRCA carriers to the age typical for those without the mutation. The identification of the key nodes that directly communicate changes in cellular metabolism to the chromatin in BRCA haploinsufficient cells may allow the epigenetic targeting of genomic instability using exclusively metabolic means. The validation of accelerated geroncogenesis as an inherited “one-hit” metabolic “field effect” might offer new strategies to therapeutically revisit the apparently irreversible genetic-hereditary fate of women with hereditary breast-ovarian cancer syndrome. PMID:26943589

On the development of the patella.

PubMed

Eyal, Shai; Blitz, Einat; Shwartz, Yulia; Akiyama, Haruhiko; Schweitzer, Ronen; Zelzer, Elazar

2015-05-15

The current view of skeletal patterning fails to explain the formation of sesamoid bones. These small bones, which facilitate musculoskeletal function, are exceptionally embedded within tendons. Although their structural design has long puzzled researchers, only a limited model for sesamoid bone development has emerged. To date, sesamoids are thought to develop inside tendons in response to mechanical signals from the attaching muscles. However, this widely accepted model has lacked substantiation. Here, we show that, contrary to the current view, in the mouse embryo the patella initially develops as a bony process at the anteriodistal surface of the femur. Later, the patella is separated from the femur by a joint formation process that is regulated by mechanical load. Concurrently, the patella becomes superficially embedded within the quadriceps tendon. At the cellular level, we show that, similar to bone eminences, the patella is formed secondarily by a distinct pool of Sox9- and Scx-positive progenitor cells. Finally, we show that TGFβ signaling is necessary for the specification of patella progenitors, whereas the BMP4 pathway is required for their differentiation. These findings establish an alternative model for patella development and provide the mechanical and molecular mechanisms that underlie this process. More broadly, our finding that activation of a joint formation program can be used to switch between the formation of bony processes and of new auxiliary bones provides a new perspective on plasticity during skeletal patterning and evolution. © 2015. Published by The Company of Biologists Ltd.

Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

PubMed

Funalot, Benoît; Reynier, Pascal; Vighetto, Alain; Ranoux, Danièle; Bonnefont, Jean-Paul; Godinot, Catherine; Malthièry, Yves; Mas, Jean-Louis

2002-09-01

Leber's hereditary optic neuropathy is a mitochondrial disease caused by point mutations in mitochondrial DNA. It usually presents as severe bilateral visual loss in young adults. We report on a neurological disorder resembling Leigh syndrome, which complicated Leber's hereditary optic neuropathy in three unrelated male patients harboring mitochondrial DNA mutations at nucleotide positions 3460, 14459, and 14484, respectively. This Leigh-like encephalopathy appears to be associated with a much more severe outcome than isolated Leber's hereditary optic neuropathy.

Spontaneous bilateral fracture of patella.

PubMed

Moretti, Biagio; Speciale, Domenico; Garofalo, Raffaele; Moretti, Lorenzo; Patella, Silvio; Patella, Vittorio

2008-03-01

Bilateral patellae fractures represent a rare entity, accounting for approximately 2.9% of all lesions interesting in this anatomical district. In most cases found in the published work, they are described as stress fractures or as complications of chronic diseases such as osteoporosis, renal failure and secondary hyperparathyroidism. Although many pathogenetic mechanisms have been supposed, none have been proved for certain. Insufficiency fractures of the patellae are rare events and no data has been published on their incidence. We present a case of bilateral fracture of the patellae due to an indirect trauma occurring in an 85-year-old patient affected by Parkinson's disease, osteoporosis and diffuse degenerative osteoarthritis. X-ray of the knees (anteroposterior and lateral) and magnetic resonance imaging evaluation confirmed the fractures. The patient was treated conservatively. She had a good result, returning to her previous autonomous ambulation. This case is unusual because there was no direct trauma to the knees because of bilaterality, but confirmed previous observations about insufficiency fractures of patellae in the presence of comorbidity. Insufficiency fractures of patellae can be an insidious condition in elderly people. Prepatellar pain, a common symptom in the relapse phase of degenerative arthritis of the knee, should not be underestimated, particularly in patients with diseases influencing metabolism of bone and with an elevated risk of fall. A periodical clinical and instrumental follow up should be done in these patient. Moreover, we underline the necessity of a multidisciplinary approach.

Medial Patella Subluxation: Diagnosis and Treatment

PubMed Central

McCarthy, Mark A.; Bollier, Mathew J.

2015-01-01

Medial patella subluxation is a disabling condition typically associated with previous patellofemoral instability surgery. Patients often describe achy pain with painful popping episodes. They often report that the patella shifts laterally, which occurs as the medial subluxed patella dramatically shifts into the trochlear groove during early knee flexion. Physical examination is diagnostic with a positive medial subluxation test. Nonoperative treatment, such as focused physical therapy and patellofemoral stabilizing brace, is often unsuccessful. Primary surgical options include lateral retinacular repair/imbrication or lateral reconstruction. Prevention is key to avoid medial patella subluxation. When considering patellofemoral surgery, important factors include appropriate lateral release indications, consideration of lateral retinacular lengthening vs release, correct MPFL graft placement and tension, and avoiding excessive medialization during tubercle transfer. This review article will analyze patient symptoms, diagnostic exam findings and appropriate treatment options, as well as pearls to avoid this painful clinical entity. PMID:26361441

Does patella position influence ligament balancing in total knee arthroplasty?

PubMed

Yoon, Jung-Ro; Oh, Kwang-Jun; Wang, Joon Ho; Yang, Jae-Hyuk

2015-07-01

In vivo comparative gap measurements were performed in three different patella positions (reduced, subluxated and everted) using offset-type-force-controlled-spreader-system. Prospectively, 50 knees were operated by total knee arthroplasty using a navigation-assisted gap-balancing technique. The offset-type-force-controlled-spreader-system was used for gap measurements. This commercially available instrument allows controllable tension in patella-reduced position. The mediolateral gaps of knee extension (0°) and flexion (90°) angle were recorded in three different patella positions; reduced, subluxated and everted. Any gap differences of more than 3 mm were considered as a meaningful difference. Correlation between the difference with the demographic data, preoperative radiologic alignment and intraoperative data was analysed. For statistical analysis, ANOVA and Pearson's correlation test were used. The gaps in patella eversion demonstrated smaller gaps both in knee extension and flexion position compared to the gaps of patella reduction position. The amount of decreased gaps was more definite in knee flexion position. Statistically significant difference was observed for the lateral gap of patella eversion compared to gap of patella reduction in knee flexion position (p < 0.05). There were notable cases of variability in knee flexion position. Significant portion of 12 (24 %) knees of patella subluxation and 33 (66 %) knees of patella evertion demonstrated either increased or decreased gaps in knee flexion position compared to the gaps of patella reduction position. The gaps in patella eversion demonstrated smaller gaps both in knee extension and flexion position compared to the gaps of patella reduction position. The amount of decreased gaps was more definite in knee flexion position. Therefore, the intraoperative patellar positioning has influence on the measurement of the joint gap. Keeping the patella in reduced position is important during gap balancing. I.

Quantitative stress radiography of the patella and evaluation of patellar laxity before and after lateral release for recurrent dislocation patella.

PubMed

Niimoto, Takuya; Deie, Masataka; Adachi, Nobuo; Usman, Muhammad Andry; Ochi, Mitsuo

2014-10-01

The aims of the present controlled clinical study were to (1) compare patella laxity determined in the outpatient clinic with that in anaesthetized patients and (2) evaluate patella laxity before and after lateral release. The study evaluated data on 33 knees from 33 patients (average age 19.7 years) between 2007 and 2011. All patients were diagnosed with recurrent dislocation of the patella. Patellar stability was evaluated in each patient thrice: patellas were first imaged in the outpatient clinic prior to surgery at 45° knee flexion with 20 N stress from the medial to lateral side and from the lateral to medial side; then, at the time of surgery, patella stress images were obtained in the same manner before and after the lateral release procedure. Radiological assessments were performed using the medial stress shift ratio (MSSR) and lateral stress shift ratio (LSSR). There were no significant differences in the LSSR and MSSR before surgery (outpatient data) and in anaesthetized patients before the lateral release procedure. Furthermore, there was no significant difference in MSSR at the time of surgery before and after the lateral release procedure. However, LSSR increased significantly after the lateral release procedure. The results of the present study suggest that quantitative patella stress radiography in the outpatient clinic is useful when it comes to investigating laxity of the patella, and that lateral release significantly increases lateral, but not medial, laxity in patients with recurrent patellar dislocation. IV.

Finite Element Analysis of Patella Alta: A Patellofemoral Instability Model.

PubMed

Watson, Nicole A; Duchman, Kyle R; Grosland, Nicole M; Bollier, Matthew J

2017-01-01

This study aims to provide biomechanical data on the effect of patella height in the setting of medial patellofemoral ligament (MPFL) reconstruction using finite element analysis. The study will also examine patellofemoral joint biomechanics using variable femoral insertion sites for MPFL reconstruction. A previously validated finite element knee model was modified to study patella alta and baja by translating the patella a given distance to achieve each patella height ratio. Additionally, the models were modified to study various femoral insertion sites of the MPFL (anatomic, anterior, proximal, and distal) for each patella height model, resulting in 32 unique scenarios available for investigation. In the setting of patella alta, the patellofemoral contact area decreased, resulting in a subsequent increase in maximum patellofemoral contact pressures as compared to the scenarios with normal patellar height. Additionally, patella alta resulted in decreased lateral restraining forces in the native knee scenario as well as following MPFL reconstruction. Changing femoral insertion sites had a variable effect on patellofemoral contact pressures; however, distal and anterior femoral tunnel malpositioning in the setting of patella alta resulted in grossly elevated maximum patellofemoral contact pressures as compared to other scenarios. Patella alta after MPFL reconstruction results in decreased lateral restraining forces and patellofemoral contact area and increased maximum patellofemoral contact pressures. When the femoral MPFL tunnel is malpositioned anteriorly or distally on the femur, the maximum patellofemoral contact pressures increase with severity of patella alta. When evaluating patients with patellofemoral instability, it is important to recognize patella alta as a potential aggravating factor. Failure to address patella alta in the setting of MPFL femoral tunnel malposition may result in even further increases in patellofemoral contact pressures, making it

Finite Element Analysis of Patella Alta: A Patellofemoral Instability Model

PubMed Central

Duchman, Kyle R.; Grosland, Nicole M.; Bollier, Matthew J.

2017-01-01

Abstract Background: This study aims to provide biomechanical data on the effect of patella height in the setting of medial patellofemoral ligament (MPFL) reconstruction using finite element analysis. The study will also examine patellofemoral joint biomechanics using variable femoral insertion sites for MPFL reconstruction. Methods: A previously validated finite element knee model was modified to study patella alta and baja by translating the patella a given distance to achieve each patella height ratio. Additionally, the models were modified to study various femoral insertion sites of the MPFL (anatomic, anterior, proximal, and distal) for each patella height model, resulting in 32 unique scenarios available for investigation. Results: In the setting of patella alta, the patellofemoral contact area decreased, resulting in a subsequent increase in maximum patellofemoral contact pressures as compared to the scenarios with normal patellar height. Additionally, patella alta resulted in decreased lateral restraining forces in the native knee scenario as well as following MPFL reconstruction. Changing femoral insertion sites had a variable effect on patellofemoral contact pressures; however, distal and anterior femoral tunnel malpositioning in the setting of patella alta resulted in grossly elevated maximum patellofemoral contact pressures as compared to other scenarios. Conclusions: Patella alta after MPFL reconstruction results in decreased lateral restraining forces and patellofemoral contact area and increased maximum patellofemoral contact pressures. When the femoral MPFL tunnel is malpositioned anteriorly or distally on the femur, the maximum patellofemoral contact pressures increase with severity of patella alta. Clinical Relevance: When evaluating patients with patellofemoral instability, it is important to recognize patella alta as a potential aggravating factor. Failure to address patella alta in the setting of MPFL femoral tunnel malposition may result in

Early outcomes of patella resurfacing in total knee arthroplasty

PubMed Central

Clements, Warren J; Miller, Lisa; Whitehouse, Sarah L; Graves, Stephen E; Ryan, Philip

2010-01-01

Background Patella resurfacing in total knee arthroplasty is a contentious issue. The literature suggests that resurfacing of the patella is based on surgeon preference, and little is known about the role and timing of resurfacing and how this affects outcomes. Methods We analyzed 134,799 total knee arthroplasties using data from the Australian Orthopaedic Association National Joint Replacement Registry. Hazards ratios (HRs) were used to compare rates of early revision between patella resurfacing at the primary procedure (the resurfacing group, R) and primary arthroplasty without resurfacing (no-resurfacing group, NR). We also analyzed the outcomes of NR that were revised for isolated patella addition. Results At 5 years, the R group showed a lower revision rate than the NR group: cumulative per cent revision (CPR) 3.1% and 4.0%, respectively (HR = 0.75, p < 0.001). Revisions for patellofemoral pain were more common in the NR group (17%) than in the R group (1%), and “patella only” revisions were more common in the NR group (29%) than in the R group (6%). Non-resurfaced knees revised for isolated patella addition had a higher revision rate than patella resurfacing at the primary procedure, with a 4-year CPR of 15% and 2.8%, respectively (HR = 4.1, p < 0.001). Interpretation Rates of early revision of primary total knees were higher when the patella was not resurfaced, and suggest that surgeons may be inclined to resurface later if there is patellofemoral pain. However, 15% of non-resurfaced knees revised for patella addition are re-revised by 4 years. Our results suggest an early beneficial outcome for patella resurfacing at primary arthroplasty based on revision rates up to 5 years. PMID:19968604

Dorsal dimelia in patau syndrome: a case report.

PubMed

Fattah, A; Pickford, M A

2007-10-01

We present a case of a child with Patau syndrome that exhibits features consistent with congenital palmar nail syndrome. The literature is reviewed and evidence presented to demonstrate that this is a defect in the dorso-ventral patterning of the limb and thus a form of dorsal dimelia. In order to differentiate this from other instances of ectopic nail tissue we suggest congenital palmar nail syndrome should be more specifically defined as duplicated nails, absent flexion creases, non-glabrous skin on the palmar surface, reduced movement at the interphalangeal joints and hypoplastic terminal phalanges.

Novel Anterior Plating Technique for Patella Fracture Fixation.

PubMed

Siljander, Matthew P; Vara, Alexander D; Koueiter, Denise M; Wiater, Brett P; Wiater, Patrick J

2017-07-01

Patella fracture fixation remains a significant challenge for orthopedic surgeons. Although tension band fixation allows for reliable osseous union, especially in simple fracture patterns, it still presents several problems. Plate fixation of patella fractures is a method that allows for more rigid stabilization and earlier mobilization. At the authors' level 1 trauma center, one fellowship-trained trauma surgeon has transitioned to using a novel anterior, low-profile mesh plate construct for all types of patella fractures. This construct allows for stable fixation, osseous union, and neutralization of the inferior pole for even the most comminuted of patella fractures. [Orthopedics. 2017; 40(4):e739-e743.]. Copyright 2017, SLACK Incorporated.

Clinical guideline seom: hereditary colorectal cancer.

PubMed

Guillén-Ponce, C; Serrano, R; Sánchez-Heras, A B; Teulé, A; Chirivella, I; Martín, T; Martínez, E; Morales, R; Robles, L

2015-12-01

Genetic mutations have been identified as the cause of inherited cancer risk in some colon cancer; these mutations are estimated to account for only 5-6 % of colorectal cancer (CRC) cases overall. Up to 25-30 % of patients have a family history of CRC that suggests a hereditary component, common exposures among family members, or a combination of both. Cancers in people with a hereditary predisposition typically occur at an earlier age than in sporadic cases. A predisposition to CRC may include a predisposition to other cancers, such as endometrial cancer. We describe genetics, current diagnosis and management of CRC hereditary syndromes pointing to a multidisciplinary approach to achieve the best results in patients and family outcomes.

Biomechanical Assessment of Patellar Advancement Procedures for Patella Alta.

PubMed

Seidl, Adam; Baldini, Todd; Krughoff, Kevin; Shapiro, Joshua A; Lindeque, Bennie; Rhodes, Jason; Carollo, James

2016-05-01

Crouch gait deformity is common in children with cerebral palsy and often is associated with patella alta. Patellar tendon advancement typically is used to correct patella alta and restore normal knee mechanics. The purpose of this study was to determine the mechanical strength of surgical constructs used for fixation during patellar advancement procedures. This study used a cadaveric model to determine which of 3 surgical techniques is biomechanically optimal for patellar tendon advancement in treating patella alta. Twenty-four human cadaveric knees (8 per group) were prepared using 1 of 3 different common surgical techniques: tibial tubercle osteotomy, patellar tendon partial resection and repair at the distal patella, and patellar tendon imbrication. The patella was loaded from 25 to 250 N at 1 Hz for 1000 cycles. A significant difference in patella displacement under cyclical loading was found between surgical techniques. Tibial tubercle osteotomy exhibited significantly less displacement under cyclical loading than distal patella excision and repair (P<.0001) or imbrication (P=.0088). Imbrication exhibited significantly less displacement than distal patella excision and repair (P=.0006). Tibial tubercle osteotomy survived longest. Based on failure criteria of 5 mm of displacement, tibial tubercle osteotomy lasted between 250 and 500 cycles. The other 2 techniques failed by 25 cycles. This study offers quantitative evidence regarding the relative mechanical strength of each construct and may influence choice of surgical technique. [Orthopedics. 2016; 39(3):e492-e497.]. Copyright 2016, SLACK Incorporated.

Update on nail cosmetics.

PubMed

Jefferson, Julie; Rich, Phoebe

2012-01-01

Nail cosmetics are used by millions of people worldwide who desire smooth, lustrous nails. The nail cosmetic industry continues to expand to meet increasing consumer demand. In 2011 alone, consumers spent $6.6 billion on nail salon services. Although nail cosmetics are relatively safe, poor application techniques can promote disease, deformity, and allergic and irritant contact dermatitis. The foundation for managing nail cosmetic problems is prevention through education. Familiarity with the procedures and materials used in the nail cosmetic industry is necessary in order to recommend safe nail care strategies. © 2012 Wiley Periodicals, Inc.

Recreational runners with patellofemoral pain exhibit elevated patella water content.

PubMed

Ho, Kai-Yu; Hu, Houchun H; Colletti, Patrick M; Powers, Christopher M

2014-09-01

Increased bone water content resulting from repetitive patellofemoral joint overloading has been suggested to be a possible mechanism underlying patellofemoral pain (PFP). To date, it remains unknown whether persons with PFP exhibit elevated bone water content. The purpose of this study was to determine whether recreational runners with PFP exhibit elevated patella water content when compared to pain-free controls. Ten female recreational runners with a diagnosis of PFP (22 to 39years of age) and 10 gender, age, weight, height, and activity matched controls underwent chemical-shift-encoded water-fat magnetic resonance imaging (MRI) to quantify patella water content (i.e., water-signal fraction). Differences in bone water content of the total patella, lateral aspect of the patella, and medial aspect of the patella were compared between groups using independent t tests. Compared with the control group, the PFP group demonstrated significantly greater total patella bone water content (15.4±3.5% vs. 10.3±2.1%; P=0.001), lateral patella water content (17.2±4.2% vs. 11.5±2.5%; P=0.002), and medial patella water content (13.2±2.7% vs. 8.4±2.3%; P<0.001). The higher patella water content observed in female runners with PFP is suggestive of venous engorgement and elevated extracellular fluid. In turn, this may lead to an increase in intraosseous pressure and pain. Copyright © 2014 Elsevier Inc. All rights reserved.

Chondroblastoma of the patella with aneurysmal bone cyst.

PubMed

Tan, Honglue; Yan, Mengning; Yue, Bing; Zeng, Yiming; Wang, You

2014-01-01

Chondroblastoma of the patella is rare. Aneurysmal bone cysts, which develop from a prior lesion such as a chondroblastoma, are seldom seen in the patella. The authors report a case of a 36-year-old man who presented with 2 years of right knee pain without calor, erythema, pain on palpation, or abnormal range of motion. Radiological studies suggested aneurysmal bone cyst. The lesion was excised with curettage and the residual cavity filled with autogenous bone graft. Histopathology revealed chondroblastoma associated with a secondary aneurysmal bone cyst. In the follow-up period, the patient demonstrated normal joint activities with no pain. Normal configuration of the patella and bone union were shown on plain radiographs. The authors present a review of the literature of all cases of patellar chondroblastoma with aneurysmal bone cyst. This case is the 14th report of aneurysmal bone cyst arising in a chondroblastoma of the patella. According to the literature, computed tomography and magnetic resonance imaging are useful in the study of these lesions. The pathologic diagnosis is based on the presence of chondroblastoma and aneurysmal bone cyst. Treatment of this lesion includes patellectomy, curettage alone, and curettage with bone grafting. Despite the risk of recurrence of this lesion in the patella, the authors first recommend curettage followed by filling the cavity with bone graft. To protect the anterior tension of the patella intraoperatively, the bone window should be made at the medial edge of the patella to perform the curettage and bone grafting.

Physics of nail conditions: why do ingrown nails always happen in the big toes?

PubMed

Rauch, Cyril; Cherkaoui-Rbati, Mohammed

2014-10-16

Although surgical treatment of nail conditions can be traced back centuries to the writings of Paul Aegineta (625-690 AC), little is known about the physical laws governing nail growth. Such a poor understanding together with the increasing number of nail salons in the high street should raise legitimate concerns regarding the different procedures applied to nails. An understanding of the physics of nail growth is therefore essential to engage with human medicine and to understand the aetiology of nail conditions. In this context, a theory of nail plate adhesion, including a physical description of nail growth can be used to determine the transverse and longitudinal curvatures of the nail plate that are so important in the physical diagnosis of some nail conditions. As a result physics sheds light on: (a) why/how nails/hooves adhere strongly, yet grow smoothly; (b) why hoof/claw/nail growth rates are similar across species; (c) potential nail damage incurred by poor trimming; (d) the connection between three previously unrelated nail conditions, i.e. spoon-shaped, pincer and ingrown nails and; last but not least, (e) why ingrown nails occur preferentially in the big toes.

Advances in Hereditary Colorectal and Pancreatic Cancer

PubMed Central

Underhill, Meghan L.; Germansky, Katharine A.; Yurgelun, Matthew B.

2017-01-01

Purpose Innovations in genetic medicine have lead to improvements in the early detection, prevention, and treatment of cancer for patients with inherited risks of gastrointestinal cancer, particularly hereditary colorectal cancer and hereditary pancreatic cancer. Methods This review provides an update on recent data and key advances that have improved the identification, understanding, and management of patients with hereditary colorectal cancer and hereditary pancreatic cancer. Findings This review details recent and emerging data that highlight the developing landscape of genetics in hereditary colorectal and pancreatic cancer risk. A summary is provided of the current state-of-the-art practices for identifying, evaluating, and managing patients with suspected hereditary colorectal cancer and pancreatic cancer risk. The impact of next-generation sequencing technologies in the clinical diagnosis of hereditary gastrointestinal cancer and also in discovery efforts of novel genes linked to familial cancer risk are discussed. Emerging targeted therapies that may play a particularly important role in the treatment of patients with hereditary forms of colorectal cancer and pancreatic cancer are also reviewed. Current approaches for pancreatic cancer screening and the psychosocial impact of such procedures are also detailed. Implications Given the availability of novel diagnostic, risk-reducing, and therapeutic strategies that exist for patients with hereditary risk for colorectal or pancreatic cancer, it is imperative that clinicians be vigilant about evaluating patients for hereditary cancer syndromes. Continuing to advance genetics research in hereditary gastrointestinal cancers will allow for more progress to be made in personalized medicine and prevention. PMID:27045993

A Novel Heterozygous Mutation in the T-box Protein 4 Gene in an Adult Case of Small Patella Syndrome.

PubMed

Oda, Tomoyuki; Matsushita, Masaki; Ono, Yohei; Kitoh, Hiroshi; Sakai, Tadahiro

2018-01-01

Small patella syndrome (SPS) is a rare skeletal dysplasia relating to the T-box protein 4 (TBX4) gene, which regulates the development of lower extremities. Patients typically present with recurrent patellar dislocation (RPD) in childhood or adolescence, leading to a diagnosis of SPS and subsequent treatment to improve activity levels. However, those with mild symptoms may not be diagnosed when young and present later after skeletal maturation, which might compromise treatment options. Further understanding of genetic mutations of SPS could possibly help early diagnosis and following adequate surgical treatment. In this case report, we present a surgically treated adult female case of RPD associated with SPS, carrying a novel heterozygous mutation in the TBX4 gene. A 19-year-old female presented with persistent right knee pain after an atraumatic episode ofpatellar dislocation during walking. The patient had a history of recurrent patella instability of the right knee with an onset at the age of 8 years due to a minor trauma. Patellar apprehension sign was positive bilaterally. There was radiological evidence of bilateral small patellae, hypoplastic femoral trochlea, and tibial tuberosity. A direct sequencing of the coding regions in the TBX4 gene had confirmed the diagnosis of SPS. A novel heterozygous mutation (p.L39PfsX35) was found in the patient and her father. Surgical treatment was indicated and the patient underwent an isolated medial patellofemoral ligament (MPFL) reconstruction while no distal realignment osteotomy was performed due to hypoplastic tibial tuberosity. Excellent subjective and objective outcomes were obtained at 1 year postoperatively. To the best of our knowledge, this is the first reported SPS case with a novel mutation in the TBX4 gene in an Asian population. While a satisfying short-term outcome was obtained by an isolated MPFL reconstruction, early genetic diagnosis in childhood with adequate surgical treatment (e.g., Roux

Arthroscopy in the diagnosis of chondromalacia patellae.

PubMed Central

Leslie, I J; Bentley, G

1978-01-01

Chondromalacia patellae is difficult to diagnosis clinically with accuracy. In order to clarify the relevant symptoms and signs, 78 patients presenting with a clinical diagnosis of chondromalacia were examined by arthroscopy. In 49% of the knees no abnormalities were found. Presenting symptoms were similar in the normal and abnormal groups. Physical signs were more helpful in diagnosis and it is considered that the presence of an effusion, quadriceps wasting, and patello-femoral crepitus are the most important clinical findings in the diagnosis of chondromalacia patellae. The arthroscope is valuable instrument in establishing the diagnosis of chondromalacia patellae especially in the teenage female. Images PMID:749700

[Surgical Techniques for Patella Replacement in Cases of Deficient Bone Stock in Revision TKA].

PubMed

Ritschl, P; Machacek, F; Strehn, L; Kloiber, J

2015-06-01

The patella replacement in revision surgery is a challenge especially in cases of unsufficient bone stock. Depending on the extent of the bone defect, the following videos demonstrate different approaches: Video 1: bone sparing removal of the patella implant: onlay-type patella implants. Video 2: complete cortical bone rim of the patella, residual thickness between 6 to 10 mm: biconvex patella implant. Video 3 and 4: small defects of the cortical bone rim of the patella, residual thickness 1 to 5 mm (patella shell): gull-wing osteotomy, patella bone grafting techniques. Video 5: partial necrosis/defect of the patella shell with incomplete cortical bone rim: porous tantalum patella prosthesis. On account of the various surgical options for different bone defects of the patella, patellectomy and pure patelloplasty should be avoided to prevent functional shortcomings. Georg Thieme Verlag KG Stuttgart · New York.

Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability

PubMed Central

Umar, Asad; Boland, C. Richard; Terdiman, Jonathan P.; Syngal, Sapna; de la Chapelle, Albert; Rüschoff, Josef; Fishel, Richard; Lindor, Noralane M.; Burgart, Lawrence J.; Hamelin, Richard; Hamilton, Stanley R.; Hiatt, Robert A.; Jass, Jeremy; Lindblom, Annika; Lynch, Henry T.; Peltomaki, Païvi; Ramsey, Scott D.; Rodriguez-Bigas, Miguel A.; Vasen, Hans F. A.; Hawk, Ernest T.; Barrett, J. Carl; Freedman, Andrew N.; Srivastava, Sudhir

2010-01-01

Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite instability (MSI). Because cancers with MSI account for approximately 15% of all colorectal cancers and because of the need for a better understanding of the clinical and histologic manifestations of HNPCC, the National Cancer Institute hosted an international workshop on HNPCC in 1996, which led to the development of the Bethesda Guidelines for the identification of individuals with HNPCC who should be tested for MSI. To consider revision and improvement of the Bethesda Guidelines, another HNPCC workshop was held at the National Cancer Institute in Bethesda, MD, in 2002. In this commentary, we summarize the Workshop presentations on HNPCC and MSI testing; present the issues relating to the performance, sensitivity, and specificity of the Bethesda Guidelines; outline the revised Bethesda Guidelines for identifying individuals at risk for HNPCC; and recommend criteria for MSI testing. PMID:14970275

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

PubMed Central

Petroni, Roberta Cardoso; da Rosa, Susana Elaine Alves; de Carvalho, Flavia Pereira; Santana, Rúbia Anita Ferraz; Hyppolito, Joyce Esteves; Nascimento, Claudia Mac Donald Bley; Hamerschlak, Nelson; Campregher, Paulo Vidal

2017-01-01

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this syndrome is still a poorly understood. We report two cases of unrelated Brazilian families with clinical suspicion of the syndrome, which were treated in our department. For the definitive diagnosis, the affected patients, their parents and siblings were submitted to Sanger sequencing of the 5’UTR region for detection of the ferritin light gene mutation. Single nucleotide polymorphism-like mutations were found in the affected patients, previously described. The test assisted in making the accurate diagnosis of the disease, and its description is important so that the test can be incorporated into clinical practice. PMID:28746593

AA amyloidosis complicating the hereditary periodic fever syndromes.

PubMed

Lane, Thirusha; Loeffler, Jutta M; Rowczenio, Dorota M; Gilbertson, Janet A; Bybee, Alison; Russell, Tonia L; Gillmore, Julian D; Wechalekar, Ashutosh D; Hawkins, Philip N; Lachmann, Helen J

2013-04-01

AA amyloidosis is a life-threatening complication of the hereditary periodic fever syndromes (HPFS), which are otherwise often compatible with normal life expectancy. This study was undertaken to determine the characteristics, presentation, natural history, and response to treatment in 46 patients who had been referred for evaluation at the UK National Amyloidosis Centre. Disease activity was monitored by serial measurement of serum amyloid A. Renal function was assessed by measurement of serum creatinine and albumin levels, the estimated glomerular filtration rate, and proteinuria from 24-hour urine collections. The amyloid load was measured by serum amyloid P scintigraphy. Twenty-four patients had familial Mediterranean fever, 12 patients had tumor necrosis factor receptor-associated periodic syndrome, 6 patients had cryopyrin-associated periodic syndromes, and 4 patients had mevalonate kinase deficiency. The median age at onset of HPFS was 5 years; median age at presentation with AA amyloidosis was 38 years. Diagnosis of an HPFS had not been considered prior to presentation with AA amyloidosis in 23 patients (50%). Eleven patients (24%) had end-stage renal failure (ESRF) at presentation; of these, 3 had received transplants prior to referral. A further 13 patients developed ESRF over the followup period, with 10 undergoing renal transplantation. The median time to progression to ESRF from onset of AA amyloidosis was 3.3 years (interquartile range [IQR] 2-8), with a median time to transplant of 4 years (IQR 3-6). Eleven patients (24%) died. The median survival in the entire cohort was 19 years from diagnosis of AA amyloidosis. Of the 37 patients who were treated successfully, or in whom at least partial suppression of the underlying HPFS was achieved, 17 (46%) showed amyloid regression, 14 (38%) showed a stable amyloid load, and 2 (5%) showed increased amyloid deposition over the followup period. AA amyloidosis remains a challenging and serious late complication

Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the Creighton University Hereditary Cancer Registry with review of the implications.

PubMed

Casey, Murray Joseph; Bewtra, Chhanda; Lynch, Henry T; Snyder, Carrie L; Stacey, Mark

2015-05-01

The aim of this study was to categorize and report endometrial cancers in mutation carriers from hereditary breast ovarian cancer families. Our Hereditary Cancer Registry was searched for gynecologic and peritoneal cancers linked to mutations in BRCA1 or BRCA2. Invasive cancers were registered in 101 mutation carriers with complete pathology reports. Efforts were made to secure diagnostic surgical pathology tissues for review. All records and available diagnostic slides were meticulously studied, and primary cancers were classified. Eight malignancies were classified as primary endometrial cancers. Five of these were low- or intermediate-grade endometrioid carcinomas, and 3 were pure serous carcinomas or contained serous carcinoma elements mixed with high-grade endometrioid carcinoma. Breast cancers were diagnosed in 5 patients before and in 1 patient after endometrial carcinoma. Three endometrioid carcinomas were preceded by estrogen treatment, 2 for many years and the other for only 2 months, and 2 of the patients with serous carcinoma had been treated with tamoxifen. The finding that 8 of gynecologic and peritoneal cancers in 101 mutation carriers were endometrial cancers with a smaller proportion of endometrioid carcinomas than reported in general populations is added to the current controversial literature on endometrial cancer, particularly regarding serous carcinomas, in hereditary breast ovarian cancer syndrome. Well-designed prospective programs for standardized surgical and pathologic handling, processing, and reporting are essential for working out the pathogenesis, true risks, and best management of this disease in carriers of deleterious BRCA1 and BRCA2 germline mutations.

Tuberculosis of the patella imitating chronic knee synovitis.

PubMed

Prakash, Jatin; Vijay, Vipul

2014-04-15

Tuberculosis of patella is a rare occurrence with incidence of less than 0.15% in the literature. Owing to its rarity the diagnosis is usually missed. Here we present a case of tuberculosis of the patella, being treated as chronic synovitis elsewhere. An 11-year-old boy presented to us with chronic knee swelling and a draining sinus of 5 months duration. He was being treated with broad spectrum antibiotics and incision and drainage. Standard X-rays revealed a lytic area with surrounding coke such as sequestrum in patella. MRI was suggestive of osteomyelitis of the patella with soft tissue oedema. Diagnosis was confirmed on biopsy. The patient was managed by curettage and excision of the sinus tract along with antitubercular treatment. The patient responded well to antitubercular therapy and gained excellent functional range of movement. In today's era of potent antituberculous drugs and decreasing tuberculosis incidence the rare and unusual locations of tuberculosis such as patella should be borne in mind while dealing with chronic lesions of the knee especially in tubercular endemic areas. A timely diagnosis helps in regaining good range of motion and a satisfactory outcome.

Chondromalacia patellae: fat-suppressed MR imaging.

PubMed

Rose, P M; Demlow, T A; Szumowski, J; Quinn, S F

1994-11-01

To evaluate the accuracy of fat-suppressed magnetic resonance (MR) imaging in diagnosing chondromalacia patellae. Seventy-one patients underwent fat-suppressed MR imaging and arthroscopy of the patellofemoral compartment. Findings were classified as early or advanced chondromalacia or as normal and were correlated with arthroscopic findings. Early and advanced stages of chondromalacia patellae were reliably detected, with positive predictive values of 85% and 92%, respectively. Specificity in early stages was 94% and in late stages was 98%. However, the overall accuracies did not differ substantially from those reported in studies that did not use fat-suppressed imaging. Axial, fat-suppressed MR imaging accurately depicts changes caused by chondromalacia patellae. Early stages can be seen as intrasubstance changes of increased signal intensity. Results of this study suggest a high degree of specificity in excluding both early and advanced changes.

Understanding the Formidable Nail Barrier: A Review of the Nail Microstructure, Composition and Diseases

PubMed Central

Baswan, Sudhir; Kasting, Gerald B.; Li, S. Kevin; Wickett, Randy; Adams, Brian; Eurich, Sean; Schamper, Ryan

2016-01-01

The topical treatment of nail fungal infections has been a focal point of nail research in the past few decades as it offers a much safer and focused alternative to conventional oral therapy. Although the current focus remains on exploring the ways of enhancing permeation through the formidable nail barrier, the understanding of the nail microstructure and composition is far from complete. This article reviews our current understanding of the nail microstructure, composition and diseases. A few of the parameters affecting the nail permeability and potential causes of the recurrence of fungal nail infection are also discussed. PMID:28098391

Understanding the formidable nail barrier: A review of the nail microstructure, composition and diseases.

PubMed

Baswan, Sudhir; Kasting, Gerald B; Li, S Kevin; Wickett, Randy; Adams, Brian; Eurich, Sean; Schamper, Ryan

2017-05-01

The topical treatment of nail fungal infections has been a focal point of nail research in the past few decades as it offers a much safer and focused alternative to conventional oral therapy. Although the current focus remains on exploring the ways of enhancing permeation through the formidable nail barrier, the understanding of the nail microstructure and composition is far from complete. This article reviews our current understanding of the nail microstructure, composition and diseases. A few of the parameters affecting the nail permeability and potential causes of the recurrence of fungal nail infection are also discussed. © 2017 Blackwell Verlag GmbH.

Identifying Women at Risk for Hereditary Breast and Ovarian Cancer Syndrome Utilizing Breast Care Nurse Navigation at Mammography and Imaging Centers.

PubMed

Appel, Susan J; Cleiment, Rosemary J

2015-12-01

Approximately 5-10% of breast cancer cases appear in families at a higher rate and at an earlier onset than in the average population. Two known gene defects, BRCA1 and BRCA2, account for the majority of these hereditary related breast cancers. Additionally, BRCA1 and BRCA2 are related to the Hereditary Breast and Ovarian Cancer syndrome (HBOC), where risk for other related cancers are increased. Various health-care professional organizations provide guidelines that speak to the need for conducting risk assessments, but little research has been conducted focusing on the initial screening for this syndrome. This quality improvement project attempts to determine if Nurse Navigators can effectively perform the initial education and screening for HBOC syndrome within a mammography and women's breast imaging setting using a simplified patient history tool. E. M. Rodgers' Diffusion of Innovation model, a map of how new ideas and programs have become adopted and accepted, guided this project's development and implementation. Over the course of 8 weeks, 1,420 women seeking service at 3 mammography and imaging sites were given a new risk assessment tool for HBOC. Additionally, the use of Nurse Navigation to identify women who may be at risk for HBOC was implemented. Two populations seeking service at the study sites were evaluated: (1) women obtaining breast screening/imaging services and (2) women receiving breast biopsy results. Patients identified as "at-risk" were defined by evidence-based practice guidelines from the National Comprehensive Cancer Network and were referred for further genetic evaluation by a genetic professional. During this initial implementation of the HBOC risk assessment program, low participation of screening/imaging patients requesting HBOC education and evaluation occurred (129 screening patients or 9%). High rates of positive biopsy patients (5 patients or 34.7%) werefound to be at risk for HBOC compared to similar studies. Identifying HBOC risk

The influence of subchondral vascularisation on chondromalacia patellae.

PubMed

Neusel, E; Graf, J

1996-01-01

An experiment was carried out on 40 rabbits in which the blood supply to the patella was interrupted for periods from 2 weeks to 6 months. With prolonged ischaemia, there were clear changes in the articular cartilage which were comparable with those seen in chondromalacia patellae.

Nailfold capillaroscopic changes in Kindler syndrome.

PubMed

Dobrev, Hristo P; Vutova, Nina I

2015-11-01

Kindler syndrome (KS), the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare, autosomal recessive disorder characterized by skin fragility and blistering at birth followed by development of marked photosensitivity and progressive poikilodermatous skin changes in later years. We reported here the case of a 54-year-old woman, who fulfills the diagnostic criteria of KS type of HEB, putting accent on the nailfold capillaroscopic changes. Using videocapillaroscopy we observed pronounced alterations in finger nail capillaries including reduction in capillary density, features of neoangiogenesis (architectural derangement, elongated loops, extremely tortuous, bushy or branching capillaries, thin, branching and interconnected capillaries), enlarged and giant capillaries. We consider the changes observed as an adaptive mechanism that compensate the loss of capillaries due to chronic periungual trauma. Further studies with larger number of patients are needed to confirm the significance of capillaroscopy findings for patients with HEB.

Transverse Stress Fracture of the Proximal Patella: A Case Report.

PubMed

Atsumi, Satoru; Arai, Yuji; Kato, Ko; Nishimura, Akinobu; Nakazora, Shigeto; Nakagawa, Shuji; Ikoma, Kazuya; Fujiwara, Hiroyoshi; Sudo, Akihiro; Kubo, Toshikazu

2016-02-01

Among stress fractures associated with sports activities, patellar stress fracture is rare. Regarding patella stress fractures, so far only distal transverse or lateral longitudinal fractures have been reported, but there are no reports of transverse fractures occurring in the proximal patella. We describe an extremely rare case of transverse stress fracture of proximal patella in a 9-year-old athlete.A 9-year old boy, who participated in sports (sprints and Kendo) presented with left knee pain without any external injury. In plain radiographs, a fracture line was observed in the proximal 1/3 of the left patella, and a patella stress fracture was diagnosed. For treatment, because 7 months of conservative therapy showed no improvement, internal fixation was carried out using Acutrak screws, and bone union was thus achieved. Three months after the operation, he was able to return to his previous level of athletic sports activity.Regarding the mechanism of onset, it is believed that the causes are longitudinal traction force and patellofemoral contact pressure. On the other hand, the contact region of the patella with the femur changes with the flexion angle of the knee. In the current case, the fracture occurred at a site where the patella was in contact with the femur at a flexion angle of >90°, so it is believed that it occurred as a clinical condition from being subjected to repeated longitudinal traction force and patellofemoral contact pressure at a flexion angle of >90°, during the sports activities of sprints and Kendo. The nonunion of the transverse stress fracture of his proximal patella was successfully treated with internal fixation using Acutrak screws.

Thermography in the detection and follow up of chondromalacia patellae.

PubMed Central

Vujcić, M; Nedeljković, R

1991-01-01

Although diagnostic criteria for chondromalacia patellae exist, the disease is often accompanied by physical signs which are limited or non-diagnostic. Thermographic examination was performed in 157 patients with clinical diagnosis of chondromalacia patellae in 86 patients after surgical treatment for chondromalacia, and in 308 controls. Thermography can help the clinicians in establishing the diagnosis of chondromalacia patellae, but by itself is not sufficiently specific. The specificity of thermography was dependent on age, ranging from 90% for the 15-24 year age group to 65% for the 45-54 year age group. Sensitivity of the method was 68%. Thermography can disclose other knee disorders which imitate chondromalacia patellae. Images PMID:1768161

Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

PubMed

Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

Outcome of prosthesis matched and unmatched patella components in primary and revision total knee replacement.

PubMed

Lewis, Peter L; Gamboa, Ai E; Campbell, David G; Lorimer, Michelle

2017-10-01

Although knee replacements have specifically designed patella prostheses that correspond to the geometry of their femoral components, a patella prosthesis that is unmatched to the femoral component may occasionally be inserted. In revision total knee arthroplasty (TKA), an originally resurfaced patella may be left, but the femoral component revised to one that does not match the patella. Few studies have compared the outcome of matched and unmatched patella components in TKA. This study compared the primary or revision TKA outcome of procedures where patella components matched to their femoral counterparts were inserted, with procedures using patella and femoral components that were unmatched. Data on all primary and revision TKA procedures without a patella component or a matched or an unmatched patella component were obtained from the Australian Orthopaedic Association National Joint Replacement Registry (AOANJRR). Revision surgery was the outcome measure. Cumulative percent revised (CPR) were calculated and Hazard ratios with p values were used to test statistical significance. In primary TKA, there were higher rates of revision where unmatched patella components were used, regardless of implant design. There was no difference in the second revision rates of unmatched versus matched patella component groups. This was evident where delayed resurfacing was carried out, and where the patella prosthesis was left alone but the femoral component was changed. All primary TKA procedures require a patella component corresponding to the femoral component if the patella is resurfaced. Conversely, revision knee arthroplasties are not affected by the use of dissimilar patella and femoral components. Copyright © 2017 Elsevier B.V. All rights reserved.

Running-induced patellofemoral pain fluctuates with changes in patella water content.

PubMed

Ho, Kai-Yu; Hu, Houchun H; Colletti, Patrick M; Powers, Christopher M

2014-01-01

Although increased bone water content resulting from repetitive patellofemoral joint loading has been suggested to be a possible mechanism underlying patellofemoral pain (PFP), there is little data to support this mechanism. The purpose of the current study was to determine whether running results in increases in patella water content and pain and whether 48 hours of rest reduces patella water content and pain to pre-running levels. Ten female runners with a diagnosis of PFP (mean age 25.1 years) participated. Patella water content was quantified using a chemical-shift-encoded water-fat magnetic resonance imaging (MRI) protocol. The visual analog scale (VAS) was used to quantify subjects' pain levels. MRI and pain data were obtained prior to running, immediately following a 40-minute running session, and 48 hours post-running. Pain and patella water content were compared among the 3 time points using one-way ANOVA's with repeated measures. Immediately post-running, persons with PFP reported significant increases in pain and exhibited elevated patella water content. Pain and patella water content decreased to pre-running levels following 48 hours of rest. Our findings suggest that transient changes in patella water content associated with running may, in part, contribute to patellofemoral symptoms.

Genetics Home Reference: hereditary diffuse gastric cancer

MedlinePlus

... Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncol. 2015 Apr; ...

When and How Is Patella Tracking Best Assessed in Total Knee Arthroplasty Surgery?

PubMed

Westerman, Richard W; Bhangoo, Navjot S; James, Peter

2016-05-01

Much emphasis has been placed on the role of patella resurfacing in total knee arthroplasty (TKA), yet the impact of soft tissue balancing has frequently been understated. The authors used a novel system to precisely assess patellofemoral joint (PFJ) tracking intraoperatively, to determine the impact of both retinacular reconstruction and tourniquet use on PFJ kinematics. PFJ kinematics assessed intraoperatively for 20 consecutive TKA patients. Measurements were recorded using both the "no thumb technique" and following reconstruction of the retinaculum with two positional sutures. The tourniquet was deflated and both measurements were repeated. Tourniquet inflation was not found to have a significant impact on the patella tracking (mean translation 0.9 mm, p = 0.15). Patella retinacular reconstruction generated a significant medialization of the patella by a mean of 5.5 mm (p < 0.0001) when compared with the traditional retinacular open "no thumb technique." The use of a tourniquet has been shown to have no effect on patella tracking. Reconstruction of the patella retinaculum markedly improves patella tracking, generating a mean medialization of 15%. The authors advocate the routine use of two positional sutures to restore the patella retinaculum, before trialing the patella component, as a reproducible means of assessing the PFJ kinematics. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Is Selectively Not Resurfacing the Patella an Acceptable Practice in Primary Total Knee Arthroplasty?

PubMed

Maradit-Kremers, Hilal; Haque, Omar J; Kremers, Walter K; Berry, Daniel J; Lewallen, David G; Trousdale, Robert T; Sierra, Rafael J

2017-04-01

To resurface or not to resurface the patella remains a controversy in total knee arthroplasty (TKA). The purpose of this study was to assess the long-term outcomes associated with selectively not resurfacing the patella. This was a historical cohort study of 15,497 patients with 21,371 primary TKA procedures performed at a single institution between 1985 and 2010. The cohort included 402 (2%) knees with unresurfaced patellae and 20,969 knees with all-polyethylene patellae designs. Reasons for not resurfacing the patella were documented. Multivariable Cox regression analyses were used to estimate the risk of complications and revisions among procedures with unresurfaced patellae. According to the surgeon, reasons for not resurfacing were normal cartilage (226, 56%), young patient (30, 8%), thin patella (53, 13%), and surgeons' choice (93, 23%). In age, sex, and calendar year-adjusted analyses, the risk of complications (hazard ratio [HR]: 1.25, 95% confidence interval [CI]: 1.06, 1.46) and all-cause revisions (HR: 1.39, 95% CI: 1.02, 1.89) were significantly higher after TKA with unresurfaced patellae. However, after adjusting for femoral component types and operative diagnoses, these associations were no longer significant. The only group with significantly worse outcomes were those with a thin patellae with increased risk of complications (HR: 2.66, 95% CI: 1.70, 4.17) and revisions (HR: 5.94, 95% CI: 2.35, 15.02). Yet, the excess risk in the thin patellae group was mainly due to infections, and not related to unresurfaced patellae. Selectively not resurfacing the patella seemed to provide similar results compared with routine resurfacing. Copyright © 2016 Elsevier Inc. All rights reserved.

Does patella lowering improve crouch gait in cerebral palsy? Comparative retrospective study.

PubMed

Desailly, E; Thévenin-Lemoine, C; Khouri, N

2017-09-01

Patella lowering aims to improve quadriceps function as a means of correcting crouch gait in patients with cerebral palsy. Few studies have assessed the effects of patella lowering as a component of multilevel surgery. Including patella lowering into the components of multilevel surgery is beneficial in patients with crouch gait and patella alta. In 12 lower limbs with patella alta (Caton-Deschamps index>1.4) in 41 children with cerebral palsy, patella lowering was performed, without distal femoral extension osteotomy or hamstring release. Among limbs with similar surgical procedures (e.g., hamstring lengthening, rectus femoris transfer) except for patella lowering, controls were selected retrospectively by matching on a propensity score for patella lowering. The propensity score was computed based on preoperative knee flexion contracture, knee extension lag, and minimum knee flexion at mid-stance. Clinical and 3D kinematic data were compared between the two groups. The improvement in minimum knee flexion at mid-stance was significantly greater in the group with patellar lowering (-24°±12°vs. -12°±7°). The Gait Deviation Index improved similarly in the two groups. Knee flexion contracture improved only in the group with patellar lowering. Extension lag did not improve in either group. Peak knee flexion during the swing phase remained unchanged in both groups. Patellar lowering is effective in diminishing minimum knee flexion at mid-stance in patients with patella alta and crouch gait due to cerebral palsy. Patellar lowering has not adverse effects on gait. These findings cannot be assumed to apply to patients with normal patellar height. IV (retrospective study). Copyright © 2017. Published by Elsevier Masson SAS.

[Traumatic separation of a type I patella bipartite in a sportsman].

PubMed

Ottesen, Casper Smedegaard; Barfod, Kristoffer Weisskirchner; Holck, Kim

2014-05-12

This is a case report of a 44-year-old sportsman who experi-enced acute onset of strong pain and loss of ability to extend his right knee during a game of beach volley. X-ray imaging showed a patella in two parts with rounded edges and with a diastasis of more than 2 cm. Intra-operatively atrophic fibrocartilage was found on both parts of the patella. Asymptomatic patella bi-partite was found on X-ray imaging of the patient's left knee, and he was diagnosed to have traumatic separation of a type I patella bipartite. The diagnosis was confirmed by surgical and radiological findings.

Biomechanical Assessment of Locked Plating for the Fixation of Patella Fractures.

PubMed

Wurm, Simone; Augat, Peter; Bühren, Volker

2015-09-01

To analyze the mechanical stability of locked plating in comparison with tension-band wiring for the fixation of fractures of the patella. Biomechanical tests were performed on artificial foam patella specimens comparing an angular stable plate and monocortical screws with tension-band wiring. Tests were performed under combined tension and bending until failure simulating physiological loading of the tibia during walking. Tension-band wiring failed at 66% of the failure load of plating (1052 N, P = 0.002) and had 5 times larger fracture gap displacements (P = 0.002). Based on the biomechanical advantages, locked plating of the patella may constitute a reasonable alternative in the treatment of patella fractures.

Chondrosarcoma of the patella: A case report.

PubMed

Ye, Conglin; Luo, Zhiping; Zeng, Jin; Dai, Min

2017-09-01

Chondrosarcoma, characterized by the production of cartilage matrix, is a common bone tumor, accounting for 20% to 27% of all malignant bone tumors. It often occurs in the cartilage of the pelvis, femur, tibia, and humerus. However, chondrosarcoma of the patella is extremely rare. The present study describes a case of chondrosarcoma affecting the right patella in a 68-year-old woman. The chief complaints were painful swelling and limitation of motion of the right knee for about half a year. The pain was a kind of dull ache. The skin around the right knee was red and hot. Moreover, she had a claudication gait due to the symptoms. Irregular lytic lesions with ill-defined margins in the patella were determined through computed tomography and magnetic resonance imaging. The diagnosis of primary grade II chondrosarcoma was finally confirmed on the basis of postoperative pathological examination. The patient underwent an open surgery named extensive resection of patellar tumor to remove the tumor tissue completely. The patient was discharged without any complications 1 week after the surgery. At the 3-month follow-up, the patient was completely free from pain during daily activities, and normal range of motion of the right knee was achieved. Her gait was normal. There was no evidence of recurrence. We believe that an extensive resection is suitable for treating chondrosarcoma to avoid as far as possible local recurrence. An awareness of the potential for chondrosarcoma to present in the patella is crucial for both orthopedic surgeons and radiologists when confronted with similar cases. Besides, as reports of chondrosarcoma of the patella are rare, this study adds a better understanding of this rare condition to the medical literature.

Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome.

PubMed

Bravo, Jaime F; Wolff, Carlos

2006-02-01

To demonstrate the high frequency and lack of diagnosis of joint hypermobility syndrome (JHS) and the seriousness of vascular Ehlers-Danlos syndrome (VEDS). Two hundred forty-nine Chilean patients with hereditary disorders of the connective tissues (CTDs) and 64 control subjects were evaluated for the diagnoses of JHS and VEDS using the validated Brighton criteria, as compared with the traditional Beighton score. In addition, the presence of blue sclera was determined, with the degree of intensity graded as mild, moderate, or marked. The frequency of hereditary CTDs was 35%, with diagnoses of JHS in 92.4% of subjects, VEDS in 7.2%, and osteogenesis imperfecta in 0.4%. The Beighton score proved to be insufficient for the diagnosis of JHS (35% of subjects had a negative score), whereas the Brighton criteria yielded positive findings (a diagnosis of JHS) in 39% of control subjects. Blue sclera was frequent, being identified in 97% of JHS patients and 94% of VEDS patients. Moderate osteopenia/osteoporosis was observed in 50% of patients with VEDS and 26% of those with JHS. Dysautonomia, dyslipidemia, and scoliosis were more frequent in VEDS patients than in JHS patients. The typical JHS facial appearance and the "hand holding the head sign" were identified. Raynaud's phenomenon was extremely rare in JHS patients (2%). Ruptured uterus and cerebral aneurysm occurred in 12% and 6% of VEDS patients, respectively. Spontaneous pneumothorax was more frequent in VEDS patients (11%) than in JHS patients (0.9%). JHS is very frequent but usually undiagnosed. The Beighton score is an insufficient method for JHS diagnosis. We recommend that physicians learn to recognize the typical facial features of JHS and be able to identify blue sclera. We also propose that validated hypermobility criteria be routinely used. Further research is needed to determine why the prevalence of JHS is so high in Chile.

Determination of sex from the patella in a contemporary Spanish population.

PubMed

Peckmann, Tanya R; Meek, Susan; Dilkie, Natasha; Rozendaal, Andrew

2016-11-01

The skull and pelvis have been used for the determination of sex for unknown human remains. However, in forensic cases where skeletal remains often exhibit postmortem damage and taphonomic changes the patella may be used for the determination of sex as it is a preservationally favoured bone. The goal of the present research was to derive discriminant function equations from the patella for estimation of sex from a contemporary Spanish population. Six parameters were measured on 106 individuals (55 males and 51 females), ranging in age from 22 to 85 years old, from the Granada Osteological Collection. The statistical analyses showed that all variables were sexually dimorphic. Discriminant function score equations were generated for use in sex determination. The overall accuracy of sex classification ranged from 75.2% to 84.8% for the direct method and 75.5%-83.8% for the stepwise method. When the South African White discriminant functions were applied to the Spanish sample they showed high accuracy rates for sexing female patellae (90%-95.9%) and low accuracy rates for sexing male patellae (52.7%-58.2%). When the South African Black discriminant functions were applied to the Spanish sample they showed high accuracy rates for sexing male patellae (90.9%) and low accuracy rates for sexing female patellae (70%-75.5%). The patella was shown to be useful for sex determination in the contemporary Spanish population. Copyright © 2016 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Patellar maltracking is prevalent among patellofemoral pain subjects with patella alta: an upright, weightbearing MRI study

PubMed Central

Pal, Saikat; Besier, Thor F.; Beaupre, Gary S.; Fredericson, Michael; Delp, Scott L.; Gold, Garry E.

2012-01-01

The purpose of this study is to determine if patellar maltracking is more prevalent among patellofemoral (PF) pain subjects with patella alta compared to subjects with normal patella height. We imaged 37 PF pain and 15 pain free subjects in an open-configuration magnetic resonance imaging scanner while they stood in a weightbearing posture. We measured patella height using the Caton-Deschamps, Blackburne-Peel, Insall-Salvati, Modified Insall-Salvati, and Patellotrochlear indices, and classified the subjects into patella alta and normal patella height groups. We measured patella tilt and bisect offset from oblique-axial plane images, and classified the subjects into maltracking and normal tracking groups. Patellar maltracking was more prevalent among PF pain subjects with patella alta compared to PF pain subjects with normal patella height (two-tailed Fisher’s exact test, p < 0.050). Using the Caton-Deschamps index, 67% (8/12) of PF pain subjects with patella alta were maltrackers, whereas only 16% (4/25) of PF pain subjects with normal patella height were maltrackers. Patellofemoral pain subjects classified as maltrackers displayed a greater patella height compared to the pain free and PF pain subjects classified as normal trackers (two-tailed unpaired t-tests with Bonferroni correction, p < 0.017). This study adds to our understanding of PF pain in two ways - 1) we demonstrate that patellar maltracking is more prevalent in PF pain subjects with patella alta compared to subjects with normal patella height; and 2) we show greater patella height in PF pain subjects compared to pain free subjects using four indices commonly used in clinics. PMID:23165335

Does Patellar Eversion in Total Knee Arthroplasty Cause Patella Baja?

PubMed Central

Sharma, Vineet; Tsailas, Panagiotis G.; Maheshwari, Aditya V.; Ranawat, Chitranjan S.

2008-01-01

Several proponents of minimally invasive surgery-total knee arthroplasty (MIS-TKA) have suggested patellar eversion during a standard exposure of the knee may cause shortening of the patellar tendon and poorer outcomes secondary to acquired patella baja. To explore this suggestion, we retrospectively reviewed 135 consecutive TKAs in 110 patients to ascertain the effect of TKA on the postoperative Insall-Salvati ratio. All surgeries were performed using standard TKA techniques with a midline incision, medial parapatellar arthrotomy, partial excision of the fat pad, and routine eversion of the patella. One patient developed a postoperative patella baja, defined as an Insall-Salvati ratio of less than 0.8. The Knee Society score for knee and function in this patient was 75 and 70, respectively. Five additional patients had a decrease in Insall-Salvati ratio by 10% or more but without patella baja. Mean Knee Society score for knee and function in these five patients was 94 (range, 73–99) and 96 (range, 90–100), respectively, as compared with 93 (range, 37–99) and 94 (range, 40–100) in the remaining 104 patients. Our data suggest the incidence of patella baja is low after TKA despite routine patellar eversion. Furthermore, a 10% or more decrease in the Insall-Salvati ratio without patella baja was not associated with a worse clinical outcome. Level of Evidence: Level IV, therapeutic study. See the Guidelines for Authors for a complete description of levels of evidence. PMID:18568378

Collagen crosslinks in chondromalacia of the patella.

PubMed

Väätäinen, U; Kiviranta, I; Jaroma, H; Arokosi, J; Tammi, M; Kovanen, V

1998-02-01

The aim of the study was to determine collagen concentration and collagen crosslinks in cartilage samples from chondromalacia of the patella. To study the extracellular matrix alterations associated to chondromalacia, we determined the concentration of collagen (hydroxyproline) and its hydroxylysylpyridinoline and lysylpyridinoline crosslinks from chondromalacia foci of the patellae in 12 patients and 7 controls from apparently normal cadavers. The structure of the collagen network in 8 samples of grades II-IV chondromalacia was examined under polarized light microscopy. The full-thickness cartilage samples taken with a surgical knife from chondromalacia lesions did not show changes in collagen, hydroxylysylpyridinoline and lysylpyridinoline concentration as compared with the controls. Polarized light microscopy showed decreased birefringence in the superficial cartilage of chondromalacia lesions, indicating disorganization or disappearance of collagen fibers in this zone. It is concluded that the collagen network shows gradual disorganization with the severity of chondromalacia lesion of the patella without changes in the concentration or crosslinks of collagen.

Squamous carcinoma of the lung metastases to the patella.

PubMed

Feng, Helin; Li, Huan; Wang, Jin; Zhang, Xiaoyu; Feng, Jiangang

2015-06-01

We report a case of a 65-year-old man with newly diagnosed squamous carcinoma of the lung, who presented with worsening left-knee pain. A bone scintigraphy displayed an increased radioactivity in the left patella. The patient underwent left patellectomy. Histopathological examination revealed metastasis to the patella from the known lung cancer.

Identity, community and care in online accounts of hereditary colorectal cancer syndrome.

PubMed

Ross, Emily; Broer, Tineke; Kerr, Anne; Cunningham-Burley, Sarah

2018-01-01

Sociological literature has explored how shifts in the point at which individuals may be designated as diseased impact upon experiences of ill health. Research has shown that experiences of being genetically "at risk" are shaped by and shape familial relations, coping strategies, and new forms of biosociality. Less is known about how living with genetic risk is negotiated in the everyday and over time, and the wider forms of identity, communities and care this involves. This article explores these arrangements drawing on online bloggers' accounts of Familial Adenomatous Polyposis (FAP). We show how accounts of genetic risk co-exist with more palpable experiences of FAP in everyday life, notably the consequences of prophylactic surgeries. We consider how the act of blogging represents but also constitutes everyday experiences of hereditary cancer syndrome as simultaneously ordinary and exceptional, and reflect on the implications of our analysis for understanding experiences of genetic cancer risk.

The management of the painful bipartite patella: a systematic review.

PubMed

McMahon, Samuel E; LeRoux, Johannes A; Smith, Toby O; Hing, Caroline B

2016-09-01

This study aimed to identify the most effective method for the treatment of the symptomatic bipartite patella. A systematic review of the literature was completed, and all studies assessing the management of a bipartite patella were included. Owing to the paucity of randomised controlled trials, a narrative review of 22 studies was completed. A range of treatments were assessed: conservative measures, open and arthroscopic fixation or excision and soft tissue release and excision. All of the methods provided results ranging from good to excellent, with acceptable complication rates. This is a poorly answered treatment question. No firm guidance can be given as to the most appropriate method of treating the symptomatic bipartite patella. This study suggests that there are a number of effective treatments with acceptable complication rates and it may be that treatments that conserve the patella are more appropriate for larger fragments. IV.

Dermoscopy in the Evaluation of Nail Disorders

PubMed Central

Alessandrini, Aurora; Starace, Michela; Piraccini, Bianca Maria

2017-01-01

Nail dermoscopy was initially used only in the assessment of nail pigmentation, but now it is widely utilized for the evaluation of many nail disorders. In daily practice, dermoscopy may confirm clinical diagnoses and guides in the management of nail diseases and treatments, permitting a better visualization of symptoms. Dry dermoscopy is required for evaluation of the nail plate surface, while gel as an interface is necessary for assessment of nail pigmentation and onycholysis, as well as for the evaluation of the distal nail margin. In this review, we describe the dermoscopic features of the most important nail disorders, looking at the different areas of the nail. Dermatoscopic changes that usually accompany specific nail diseases are also reviewed. PMID:28560217

MRI quantitative morphologic analysis of patellofemoral region: lack of correlation with chondromalacia patellae at surgery.

PubMed

Endo, Yoshimi; Schweitzer, Mark E; Bordalo-Rodrigues, Marcelo; Rokito, Andrew S; Babb, James S

2007-11-01

In numerous studies, the morphologic features of the patellofemoral joint have been analyzed on radiographs. The objective of this study was to assess patellofemoral measurements on MR images and to correlate the measurements with the presence or absence of chondromalacia patellae confirmed at surgery. Axial and sagittal MR images of 98 knees (97 patients) were evaluated. Lateral and medial patellar facet lengths, lateral-to-medial facet length ratio, and interfacet angle were measured at three levels through the patella. Trochlear depth was measured on an axial slice. Patella and patellar tendon lengths, patellar tendon-to-patella ratio, and overlap of the patellar and trochlear articular cartilages were measured on sagittal slices. These measurements in knees with chondromalacia patellae were compared with those in knees without chondromalacia patellae. For assessment of reproducibility, axial measurements were repeated by a second observer. There was no statistically significant difference in any of the axial and sagittal slice measurements between knees with and those without chondromalacia patellae. Interobserver reliability was excellent for measurements of trochlear depth and measurements in the superior and middle aspects of the patella. Measurements through the inferior patella were slightly less reproducible. The results of our study with MRI confirmed many previous radiographic findings. Although we did not find correlation between the presence of chondromalacia patellae and the patellofemoral indexes we analyzed, it is possible that the results of further investigations incorporating different grades of chondromalacia and different locations along the patellar articular surface may lead to further insight regarding the morphologic risk factors for chondromalacia patellae.

Nail toxicity induced by cancer chemotherapy.

PubMed

Gilbar, Peter; Hain, Alice; Peereboom, Veta-Marie

2009-09-01

To provide a comprehensive literature review of chemotherapy-induced nail toxicity, including clinical presentation, implicated drugs and approaches for prevention and management. A search of MEDLINE and EMBASE (1966-2008) databases was conducted using the terms (and variations of the terms) antineoplastic agents, nails, nail toxicity, onycholysis, and paronychia. Bibliographies from selected articles were reviewed for appropriate references. The retrieved literature was reviewed to include all articles relevant to the clinical presentation, diagnosis, incidence, prevention, and treatment of chemotherapy-induced nail toxicity. Nail toxicity is a relatively uncommon adverse effect linked to a number of chemotherapeutic agents. Clinical presentation varies, depending on which nail structure is affected and the severity of the insult. Nail changes may involve all or some nails. Toxicity may be asymptomatic and limited to cosmetic concerns, however, more severe effects, involving pain and discomfort can occur. Taxanes and anthracyclines are the antineoplastic drug groups most commonly implicated. It is suggested that the administration schedule may influence the incidence of nail abnormalities, for example reported cases linked to the weekly administration of paclitaxel.Before instituting chemotherapy, patients should be educated regarding potential nail toxicities and strategies for prevention implemented. Management includes appropriate nail cutting, avoiding potential irritants, topical, or oral antimicrobials, and possibly cessation or dose reduction of the offending agent. Cryotherapy, through the application of frozen gloves or socks, has been beneficial in reducing docetaxel-induced nail toxicity and may be effective for other drugs.

The effect of nail polish and acrylic nails on pulse oximetry reading using the Lifebox oximeter in Nigeria.

PubMed

Desalu, I; Diakparomre, O I; Salami, A O; Abiola, A O

2013-12-01

AIMS AND OBJECTIVES - Pulse oximetry is mandatory during anaesthesia, sedation and transfer of critically ill patients. The effect of nail polish and acrylic nails on the accuracy of saturation reading is inconsistent. The Lifebox pulse oximeter is reliable and recommended for low and middle income countries. We investigated its accuracy in the presence of 4 nail colours and acrylic nails SUBJECTS AND METHODS Fifty non-smoking volunteers had their fingers numbered from right to left (little finger of right hand =1 and little finger of left hand =10). Alternate fingers were nails painted with clear, red, brown and black nail polish and the 5th finger had acrylic nail applied. The corresponding finger on the other hand acted as control. The oxygen saturation was determined using the Lifebox pulse oximeter. Results All fingers (100%) with clear nail polish, red nail polish and acrylic nails recorded a saturation value. Each of the mean saturation value for clear nail polish, red nail polish and acrylic nails was not significantly different from the control mean (p= 0.378, 0.427 and 0.921). Only 12% and 64% of nails polished black and brown respectively recorded a saturation value. The mean SpO- for black and brown polish were significantly different from their control mean (p<0.001). CONCLUSION Black and brown polish resulted in a significant decrease in SpO with the Lifebox oximeter. Dark coloured nail polish should be removed prior to SpO2 determination to ensure that accurate readings can be obtained.

Unique patellofemoral alignment in a patient with a symptomatic bipartite patella.

PubMed

Ishikawa, Masakazu; Adachi, Nobuo; Deie, Masataka; Nakamae, Atsuo; Nakasa, Tomoyuki; Kamei, Goki; Takazawa, Kobun; Ochi, Mitsuo

2016-01-01

A symptomatic bipartite patella is rarely seen in athletic adolescents or young adults in daily clinical practice. To date, only a limited number of studies have focused on patellofemoral alignment. The current study revealed a unique patellofemoral alignment in a patient with a symptomatic bipartite patella. Twelve patients with 12 symptomatic bipartite patellae who underwent arthroscopic vastus lateralis release (VLR) were investigated (10 males and two females, age: 15.7±4.4years). The radiographic data of contralateral intact and affected knees were reviewed retrospectively. From the lateral- and skyline-view imaging, the following parameters were measured: the congruence angle (CA), the lateral patellofemoral angle (LPA), and the Caton-Deschamps index (CDI). As an additional parameter, the bipartite fragment angle (BFA) was evaluated against the main part of the patella in the skyline view. Compared with the contralateral side, the affected patellae were significantly medialized and laterally tilted (CA: P=0.019; LPA: P=0.016), although there was no significant difference in CDI (P=0.877). This patellar malalignment was found to significantly change after VLR (CA: P=0.001; LPA: P=0.003) and the patellar height was significantly lower than in the preoperative condition (P=0.016). In addition, the BFA significantly shifted to a higher degree after operation (P=0.001). Patients with symptomatic bipartite patellae presented significantly medialized and laterally tilted patellae compared with the contralateral intact side. This malalignment was corrected by VLR, and the alignment of the bipartite fragment was also significantly changed. Level IV, case series. Copyright © 2015 Elsevier B.V. All rights reserved.

Patella Height Correlates With Trochlear Dysplasia: A Computed Tomography Image Analysis.

PubMed

Ferlic, Peter Wilhelm; Runer, Armin; Dammerer, Dietmar; Wansch, Jürgen; Hackl, Wolfgang; Liebensteiner, Michael Christian

2018-06-01

The aim of this study was to investigate the position of the patella relative to the trochlea for a possible correlation with radiologic parameters characterizing the form of the trochlea. The computed tomography scans of 36 cases with patellofemoral instability and 30 without (mean age, 24.7 ± 6.8 years) were studied. The height of the patella relative to the trochlea was evaluated as the distance between the axial slice where the patella (P) showed its widest diameter, as the patella at this level has the greatest potential to form the trochlea, and the proximal entrance of the femoral trochlea (TE). The correlations between this parameter and several radiologic parameters used to evaluate trochlear dysplasia, including trochlea height, transverse trochlea shift, trochlea depth, sulcus angle, lateral and medial trochlea slope, trochlea facet asymmetry, and the Dejour trochlea type, were calculated. The P-TE distance correlated significantly with all trochlea parameters evaluated, with a more dysplastic trochlea in cases of higher position of the patella: medial, central, and lateral trochlea height (0.287 patella height was significantly related to the morphology of the femoral trochlea. The strongest correlations with patella height were observed for the parameters central trochlea height (r = 0.490, P < .001) and transverse trochlea shift (r = 0.516, P < .001). A higher positioned patella was associated with a more dysplastic trochlea. Level III, retrospective cross-sectional study. Copyright © 2018 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.

Bilateral recurrent discloation of the patella associated with below knee amputation: A case report

PubMed Central

Batra, Sumit; Kumar, Ratnesh; Lenka, Prasanna

2005-01-01

Background Recurrent dislocation of the patella in patients with below knee amputation is a known entity. Abnormally high-riding patella (patella alta) and medial patellofemoral ligament insufficiency in these patients predisposes them to patellar instability. The established treatment of this problem is surgical realignment. Case presentation A 25 year old male patient with bilateral below knee amputation presented with bilateral recurrent dislocation of the patella while walking on knees on uneven ground. Clinical and radiographic studies showed patella alta. A simple shoe modification was used to treat this patient. Conclusions A simple shoe modification can be used to treat such a condition which is otherwise treated surgically. PMID:15717922

Reamed versus unreamed intramedullary nailing for the treatment of femoral fractures

PubMed Central

Li, A-Bing; Zhang, Wei-Jiang; Guo, Wei-Jun; Wang, Xin-Hua; Jin, Hai-Ming; Zhao, You-Ming

2016-01-01

Abstract Background and objective: Intramedullary nailing is commonly used for treating femoral shaft fractures, one of the most common long bone fractures in adults. The reamed intramedullary nail is considered the standard implant for femoral fractures. This meta-analysis was performed to verify the superiority of reamed intramedullary nailing over unreamed intramedullary nailing in fractures of the femoral shaft in adults. Subgroup analysis of implant failure and secondary procedure was also performed. Methods: Electronic literature databases were used to identify relevant publications and included MEDLINE (Ovid interface), EMBASE (Ovid interface), and the Cochrane Central Register of Controlled Trials (CENTRAL; Wiley Online Library). The versions available on January 30, 2016, were utilized. Only human studies, which were designed as randomized controlled clinical trials, were included. Two authors independently evaluated the quality of original research publications and extracted data from the studies that met the criteria. Results: Around 8 randomized controlled trials involving 1078 patients were included. Reamed intramedullary nailing was associated with shorter time to consolidation of the fracture (SMD = –0.62, 95% CI = –0.89 to –0.35, P < 0.00001), lower secondary procedure rate (OR = 0.25, 95% CI 0.10–0.62, P = 0.003), lower nonunion rate (OR = 0.14, 95% CI = 0.05–0.40, P < 0.01), and lower delayed-union rate (OR = 0.19, 95% CI = 0.07–0.49, P < 0.01) compared to unreamed intramedullary nailing. The 2 groups showed no significant differences in risk of implant failure (OR = 0.50, 95% CI 0.14–1.74, P = 0.27), mortality risk (OR = 0.94, 95% CI 0.19–4.68, P = 0.94), risk of acute respiratory distress syndrome (ARDS; OR = 1.55, 95% CI 0.36–6.57, P = 0.55), or blood loss (SMD = 0.57, 95% CI = –0.22 to 1.36, P = 0.15). Conclusion: Reamed intramedullary nailing

Basement Membrane Defects in Genetic Kidney Diseases

PubMed Central

Chew, Christine; Lennon, Rachel

2018-01-01

The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components including type IV collagen, laminins, nidogens, and heparan sulfate proteoglycans. The characteristics of specific matrix isoforms such as laminin-521 (α5β2γ1) and the α3α4α5 chain of type IV collagen are essential for the formation of a mature GBM and the restricted tissue distribution of these isoforms makes the GBM a unique structure. Detailed investigation of the GBM has been driven by the identification of inherited abnormalities in matrix proteins and the need to understand pathogenic mechanisms causing severe glomerular disease. A well-described hereditary GBM disease is Alport syndrome, associated with a progressive glomerular disease, hearing loss, and lens defects due to mutations in the genes COL4A3, COL4A4, or COL4A5. Other proteins associated with inherited diseases of the GBM include laminin β2 in Pierson syndrome and LMX1B in nail patella syndrome. The knowledge of these genetic mutations associated with GBM defects has enhanced our understanding of cell–matrix signaling pathways affected in glomerular disease. This review will address current knowledge of GBM-associated abnormalities and related signaling pathways, as well as discussing the advances toward disease-targeted therapies for patients with glomerular disease. PMID:29435440

Tibiotalocalcaneal arthrodesis with a retrograde intramedullary nail: a biomechanical analysis of the effect of nail length.

PubMed

Noonan, Timothy; Pinzur, Michael; Paxinos, Odysseas; Havey, Robert; Patwardhin, Avinash

2005-04-01

Fatigue fractures of the tibia have been observed at the level of the proximal end of the nail after successful tibiocalcaneal arthrodesis with a retrograde intramedullary device. To study the effect of nail length, five matched pairs of cadaver tibiae were instrumented with strain gauges and potted in methylmethacrylate from a level 3 cm proximal to the distal medial malleolus to simulate a successful tibiocalcaneal arthrodesis. A standard length (15 cm) ankle arthrodesis nail and an identical longer device terminating in the proximal tibial metaphysis were inserted in each paired tibia using appropriate technique. The strain of the posterior cortex of the tibia was recorded under bending moments of up to 50 Nm for each intact specimen after nail insertion and after proximal locking of the nail. The nails were then exchanged between the specimens of the same pairs and the experiment was repeated to insure uniformity. The standard length locked nail increased the principal strain of the posterior cortex of the tibia at the level of the proximal screw holes 5.3 times more than the locked long nail (353 and 67 microstrains), respectively. This stress concentration was not observed when the proximal extent of the nail terminated within the proximal tibial metaphysis. A successful tibiocalcaneal arthrodesis with a standard length locked intramedullary nail creates stress concentration around the proximal screw holes that may be responsible for the fractures observed clinically. This study supports the use of a "long" retrograde locked intramedullary nail for tibiocalcaneal arthrodesis in patients with systemic or localized osteopenia.

Patella resurfacing during total knee arthroplasty: have we got the issue covered?

PubMed

Sandiford, Nemandra A; Alao, Uthman; Salamut, Wazirl; Weitzel, Stefan; Skinner, J A

2014-12-01

Management of the patella during total knee arthroplasty (TKA) is controversial. Multiple studies have examined mechanical and clinical results of TKA with native and resurfaced patellae with no clear consensus. We surveyed a large cohort of consultant surgeons in a questionnaire based study in order to assess the indications for patella resurfacing and to correlate practice with degree of specialization, experience and volume of procedures performed. Six hundred and nineteen surgeons were included. The main indication for patella resurfacing was patellofemoral arthritis. The ratio of those who always:sometimes:never resurfaced was 1:2:1 irrespective of experience or volume performed. There was no difference between knee specialists and non-specialists (p = 0.977) or between high and lower volume surgeons (p = 0.826). Senior and high volume surgeons tended to always resurface. The majority of surgeons only sometimes resurfaced the patella. The number who always and never resurfaced were similar. There was a tendency for more experienced and high volume surgeons to always resurface.

[Correlation analysis on the disorders of patella-femoral joint and torsional deformity of tibia].

PubMed

Sun, Zhen-Jie; Yuan, Yi; Liu, Rui-Bo

2015-03-01

To reveal the possible mechanism involved in patella-femoral degenerative arthritis (PFDA) in- duced by torsion-deformity of tibia via analyzing the relationship between torsion-deformity of the tibia in patients with PFDA and the disorder of patella-femoral joint under the static and dynamic conditions. From October 2009 to October 2010, 50 patients (86 knees, 24 knees of male patients and 62 knees of female patients) with PFDA were classified as disease group and 16 people (23 knees, 7 knees of males and 16 knees of females) in the control group. The follow indexes were measured: the torsion-angle of tibia on CT scanning imagings, the patella-femoral congruence angle and lateral patella-femoral angle under static and dynamic conditions when the knee bent at 30 degrees of flexion. Based on the measurement results, the relationship between the torsion-deformity of tibias and the disorders of patella-femoral joints in patients with PFDA were analyzed. Finally,the patients were divided into three groups including large torsion-angle group, small torsion-angle group and normal group according to the size of torsion-angle, in order to analyze the relationship between torsion-deformity and disorders of patella-femoral joint, especially under the dynamic conditions. Compared with patients without PFDA, the ones with PFDA had bigger torsion-angle (30.30 ± 7.11)° of tibia, larger patella-femoral congruence angle (13.20 ± 3.94)° and smaller lateral patella-femoral angle (12.30 ± 3.04)°. The congruence angle and lateral patella-femoral angle under static and dynamic conditions had statistical differences respectively in both too-big torsion-angle group and too-small torsion-angle group. The congruence angle and lateral patella-femoral angle under static and dynamic conditions had no statistical differences in normal torsion-angle group. Torsion-deformity of tibia is the main reason for disorder of patella-femoral joint in the patients with PFDA. Torsion-deformity of

Nail-Gun Injuries to the Hand

PubMed Central

Pierpont, Yvonne N.; Pappas-Politis, Effie; Naidu, Deepak K.; Salas, R. Emerick; Johnson, Erika L.; Payne, Wyatt G.

2008-01-01

Background: The nail gun is a commonly utilized tool in carpentry and construction. When used properly with appropriate safety precautions, it can facilitate production and boost efficiency; however, this powerful tool also has the potential to cause serious injury. The most common site of nail-gun injuries in both industrial and nonoccupational settings is the hand. Materials and Methods: We report on two patients with nail-gun injuries to the hand. A review of the literature and discussion of clinical evaluation and treatment of nail-gun injuries to the hand are presented. Results: Two patients present with soft tissue injuries to the hand with the nail embedded and intact at the injury site. Operative removal of the nail and wound care resulted in successful treatment in both cases. Nail-gun injuries to the hand vary in severity on the basis of the extent of structural damage. Treatment is based on the severity of injury and the presence and location of barbs on the penetrating nail. Conclusion: Healthcare providers must understand and educate patients on the prevention mechanics of nail-gun injuries. Nail-gun injuries to the hand necessitate appropriate evaluation techniques, understanding of surgical management versus nonsurgical management, and awareness of potential pitfalls in treatment. PMID:19079574

Anatomy, morphology and evolution of the patella in squamate lizards and tuatara (Sphenodon punctatus).

PubMed

Regnault, Sophie; Jones, Marc E H; Pitsillides, Andrew A; Hutchinson, John R

2016-05-01

The patella (kneecap) is the largest and best-known of the sesamoid bones, postulated to confer biomechanical advantages including increasing joint leverage and reinforcing the tendon against compression. It has evolved several times independently in amniotes, but despite apparently widespread occurrence in lizards, the patella remains poorly characterised in this group and is, as yet, completely undescribed in their nearest extant relative Sphenodon (Rhynchocephalia). Through radiography, osteological and fossil studies we examined patellar presence in diverse lizard and lepidosauromorph taxa, and using computed tomography, dissection and histology we investigated in greater depth the anatomy and morphology of the patella in 16 lizard species and 19 Sphenodon specimens. We have found the first unambiguous evidence of a mineralised patella in Sphenodon, which appears similar to the patella of lizards and shares several gross and microscopic anatomical features. Although there may be a common mature morphology, the squamate patella exhibits a great deal of variability in development (whether from a cartilage anlage or not, and in the number of mineralised centres) and composition (bone, mineralised cartilage or fibrotendinous tissue). Unlike in mammals and birds, the patella in certain lizards and Sphenodon appears to be a polymorphic trait. We have also explored the evolution of the patella through ancestral state reconstruction, finding that the patella is ancestral for lizards and possibly Lepidosauria as a whole. Clear evidence of the patella in rhynchocephalian or stem lepidosaurian fossil taxa would clarify the evolutionary origin(s) of the patella, but due to the small size of this bone and the opportunity for degradation or loss we could not definitively conclude presence or absence in the fossils examined. The pattern of evolution in lepidosaurs is unclear but our data suggest that the emergence of this sesamoid may be related to the evolution of secondary

[The progress and prospect of application of genetic testing technology-based gene detection technology in the diagnosis and treatment of hereditary cancer].

PubMed

He, J X; Jiang, Y F

2017-08-06

Hereditary cancer is caused by specific pathogenic gene mutations. Early detection and early intervention are the most effective ways to prevent and control hereditary cancer. High-throughput sequencing based genetic testing technology (NGS) breaks through the restrictions of pedigree analysis, provide a convenient and efficient method to detect and diagnose hereditary cancer. Here, we introduce the mechanism of hereditary cancer, summarize, discuss and prospect the application of NGS and other genetic tests in the diagnosis of hereditary retinoblastoma, hereditary breast and ovarian cancer syndrome, hereditary colorectal cancer and other complex and rare hereditary tumors.

Articular cartilage changes in chondromalacia patellae.

PubMed

Bentley, G

1985-11-01

Full thickness samples of articular cartilage were removed from areas of chondromalacia on the medial and "odd" facets of the patellae of 21 adults and examined by histology, autoradiography and electron microscopy. Surface fibrillation, loss of superficial matrix staining and reduced 35SO4 labelling was seen, with little change in the deep zone. Ten cases showed "fibrous metaplasia" of the superficial cartilage with definite evidence of cell division and apparent smoothing of the surface. Scattered chondrocyte replication appeared to occur in the surrounding intact cartilage. The findings suggest that early lesions in chondromalacia patellae may heal either by cartilage or fibrous metaplasia and that this may account for the resolution of clinical symptoms.

Effects of surgical intervention on trochlear remodeling in pediatric patients with recurrent patella dislocation cases.

PubMed

Sugimoto, Dai; Christino, Melissa A; Micheli, Lyle J

2016-07-01

Patella instability is often encountered among physically active pediatric athletes, and surgical intervention is useful in cases with recurrent patella dislocations, chronic instability, and abnormal alignment. Several surgical procedures have been used for patella-realignment and stabilization, but the effects of surgical intervention on bony trochlear remodeling in skeletally immature patients have not been well studied. We thus present two cases of pediatric recurrent patella dislocations that showed trochlear remodeling following patella-realignment surgery. The first case describes an 11-year-old female treated with a Roux-Golthwait procedure and the second case highlights a 12-year-old male treated with lateral release and medial capsular reefing. The Merchant technique, a radiographic criterion that was designed to evaluate patella alignment in relation to the femoral trochlea groove, including sulcus and congruence angles was used to measure postoperative bony development. Both pediatric patients showed successful outcomes following surgical interventions for chronic patella instability. Using the Merchant technique, both patients showed improved congruence and sulcus angles postoperatively. Patella realignment in skeletally immature patients may be beneficial for promoting trochlear remodeling and deepening of the trochlear groove, which may help protect against future dislocation or subluxation events. Level IV, case report.

Effect of mechanical forces on finger nail curvature: an analysis of the effect of occupation on finger nails.

PubMed

Sano, Hitomi; Shionoya, Kaori; Ogawa, Rei

2014-04-01

We studied the relationship between mechanical force and nail curvature. The effect of different frequencies and strengths of mechanical force on nail curvature was assessed. In Study 1, 63 carpenters and 63 office workers were enrolled, and the configurations of their thumb nails were assessed by measuring the curve index (defined as nail height/width) and pinch strength. In Study 2, nail curvature and pinch strength of jazz bassists, who characteristically do not use the right fourth and fifth fingers but use the left fifth finger a lot, were compared. In Study 3, the thumb nail curvature and pinch strength of the dominant and nondominant sides of the 126 participants from Study 1 were compared. Study 1: Carpenters had a significantly lower mean thumb nail curve index and higher mean pinch strength. Study 2: The nails of the unused right fourth and fifth fingers were much more curved than the nails of the frequently used left fourth and fifth fingers. The pinch strength of the right fifth finger was much weaker than the pinch strength of the left fifth finger. Study 3: The dominant side had a significantly lower nail curve index and higher pinch strength. The frequency and strength of mechanical forces on finger nails significantly affect nail appearance. © 2014 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.

Chondromalacia patellae: diagnosis with MR imaging.

PubMed

McCauley, T R; Kier, R; Lynch, K J; Jokl, P

1992-01-01

Most previous studies of MR imaging for detection of chondromalacia have used T1-weighted images. We correlated findings on axial MR images of the knee with arthroscopic findings to determine MR findings of chondromalacia patellae on T2-weighted and proton density-weighted images. The study population included 52 patients who had MR examination of the knee with a 1.5-T unit and subsequent arthroscopy, which documented chondromalacia patellae in 29 patients and normal cartilage in 23. The patellar cartilage was assessed retrospectively for MR signal and contour characteristics. MR diagnosis based on the criteria of focal signal or focal contour abnormality on either the T2-weighted or proton density-weighted images yielded the highest correlation with the arthroscopic diagnosis of chondromalacia. When these criteria were used, patients with chondromalacia were detected with 86% sensitivity, 74% specificity, and 81% accuracy. MR diagnosis based on T2-weighted images alone was more sensitive and accurate than was diagnosis based on proton density-weighted images alone. In conclusion, most patients with chondromalacia patellae have focal signal or focal contour defects in the patellar cartilage on T2-weighted MR images. These findings are absent in most patients with arthroscopically normal cartilage.

Revisiting Pneumatic Nail Gun Trigger Recommendations

PubMed Central

Albers, James; Lipscomb, Hester; Hudock, Stephen; Dement, John; Evanoff, Bradley; Fullen, Mark; Gillen, Matt; Kaskutas, Vicki; Nolan, James; Patterson, Dennis; Platner, James; Pompeii, Lisa; Schoenfisch, Ashley

2015-01-01

Summary Use of a pneumatic nail gun with a sequential actuation trigger (SAT) significantly diminishes the risk for acute traumatic injury compared to use of a contact actuation trigger (CAT) nail gun. A theoretically-based increased risk of work-related musculoskeletal disorders from use of a SAT nail gun, relative to CAT, appears unlikely and remains unproven. Based on current knowledge, the use of CAT nail guns cannot be justified as a safe alternative to SAT nail guns. This letter provides a perspective of ergonomists and occupational safety researchers recommending the use of the sequential actuation trigger for all nail gun tasks in the construction industry. PMID:26366020

Revisiting Pneumatic Nail Gun Trigger Recommendations.

PubMed

Albers, James; Lowe, Brian; Lipscomb, Hester; Hudock, Stephen; Dement, John; Evanoff, Bradley; Fullen, Mark; Gillen, Matt; Kaskutas, Vicki; Nolan, James; Patterson, Dennis; Platner, James; Pompeii, Lisa; Schoenfisch, Ashley

2015-03-01

Use of a pneumatic nail gun with a sequential actuation trigger (SAT) significantly diminishes the risk for acute traumatic injury compared to use of a contact actuation trigger (CAT) nail gun. A theoretically-based increased risk of work-related musculoskeletal disorders from use of a SAT nail gun, relative to CAT, appears unlikely and remains unproven. Based on current knowledge, the use of CAT nail guns cannot be justified as a safe alternative to SAT nail guns. This letter provides a perspective of ergonomists and occupational safety researchers recommending the use of the sequential actuation trigger for all nail gun tasks in the construction industry.

Impact of a healthy nails program on nail-biting in Turkish schoolchildren: a controlled pretest-posttest study.

PubMed

Ergun, Ayse; Toprak, Rumeysa; Sisman, Fatma Nevin

2013-12-01

This study was conducted to examine the effect of a healthy nails program on nail-biting in Turkish schoolchildren. This quasi-experimental study was of pretest-posttest control group design. A total of 50 students of a primary school formed the intervention group, while 53 students from the same school formed the control group. Data were collected with a demographic form, a nail-biting follow-up form, and photographs of the fingernails. It was found that 68.9% of students were biting seven or more of their nails; 46.6% had damaged nail beds. In the intervention group, the rate of the children who were not biting their nails (baseline = 0%, 4th week = 56.0%, 8th week = 64.0%) increased significantly compared to the control group (baseline = 0%, 4th week = 15.1%, 8th week = 18.9%). Outcomes indicate the efficacy of the healthy nails program in reducing the nail-biting problem in schoolchildren.

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review

PubMed Central

Beheshtian, Maryam; Babanejad, Mojgan; Azaiez, Hela; Bazazzadegan, Niloofar; Kolbe, Diana; Sloan-Heggen, Christina; Arzhangi, Sanaz; Booth, Kevin; Mohseni, Marzieh; Frees, Kathy; Hossein Azizi, Mohammad; Daneshi, Ahmad; Farhadi, Mohammad; Kahrizi, Kimia; Smith, Richard JH; Najmabadi, Hossein

2017-01-01

A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable to most inherited diseases, such as hereditary hearing loss (HHL), the genetic picture of HHL among the Iranian population, which consists of at least eight ethnic subgroups with a high rate of intermarriage, is expected to be highly heterogeneous. Using an electronic literature review through various databases such as PubMed, MEDLINE, and Scopus, we review the current picture of HHL in Iran. In this review, we present more than 39 deafness genes reported to cause non-syndromic HHL in Iran, of which the most prevalent causative genes include GJB2, SLC26A4, MYO15A, and MYO7A. In addition, we highlight some of the more common genetic causes of syndromic HHL in Iran. These results are of importance for further investigation and elucidation of the molecular basis of HHL in Iran and also for developing a national diagnostic tool tailored to the Iranian context enabling early and efficient diagnosis of hereditary hearing impairment. PMID:27743438

Current concepts of etiology and treatment of chondromalacia patellae.

PubMed

Bentley, G; Dowd, G

1984-10-01

Chondromalacia patellae is a distinct clinical entity characterized by retropatellar pain that is associated with recognizable changes in the articular cartilage of the posterior surface of the patella. Several factors may be involved in the etiology, such as severe patella alta, trauma, and, in rare cases, abnormal patellar tracking. Clinical symptoms and signs are reliable in only 50% of cases, but measurable quadriceps wasting, palpable patellofemoral crepitus, and effusion are strongly suggestive. Diagnosis must be confirmed by arthroscopy or direct examination of the posterior surface of the patella. Radiologic measurements of patellofemoral relations are of limited value in diagnosis. The initial pathologic finding is usually surface cartilage breakdown. Radioisotope studies show cartilage cell replication which suggests a healing capacity in early cases following treatment that alters the load through the affected cartilage. There is no evidence of progression to patellofemoral osteoarthritis, which is probably a different entity. The treatment should be conservative where possible with isometric quadriceps exercises and simple anti-inflammatory drugs such as aspirin. Operative treatment is indicated for patients with persistent pain and macroscopic involvement of more than half a centimeter of the articular cartilage surface. The simplest effective procedure that avoids quadriceps dysfunction and fibrosis is a distal patellar tendon medial realignment with lateral release and medial reefing of the quadriceps expansion. Patellectomy is indicated in more extensive involvement of the patella of 2 or more centimeters in diameter, but this must be performed only when the patient has excellent quadriceps function before surgery and is motivated to exercise after surgery.

The associations between indices of patellofemoral geometry and knee pain and patella cartilage volume: a cross-sectional study

PubMed Central

2010-01-01

Background Whilst patellofemoral pain is one of the most common musculoskeletal disorders presenting to orthopaedic clinics, sports clinics, and general practices, factors contributing to its development in the absence of a defined arthropathy, such as osteoarthritis (OA), are unclear. The aim of this cross-sectional study was to describe the relationships between parameters of patellofemoral geometry (patella inclination, sulcus angle and patella height) and knee pain and patella cartilage volume. Methods 240 community-based adults aged 25-60 years were recruited to take part in a study of obesity and musculoskeletal health. Magnetic resonance imaging (MRI) of the dominant knee was used to determine the lateral condyle-patella angle, sulcus angle, and Insall-Salvati ratio, as well as patella cartilage and bone volumes. Pain was assessed by the Western Ontario and McMaster University Osteoarthritis Index (WOMAC) VA pain subscale. Results Increased lateral condyle-patella angle (increased medial patella inclination) was associated with a reduction in WOMAC pain score (Regression coefficient -1.57, 95% CI -3.05, -0.09) and increased medial patella cartilage volume (Regression coefficient 51.38 mm3, 95% CI 1.68, 101.08 mm3). Higher riding patella as indicated by increased Insall-Salvati ratio was associated with decreased medial patella cartilage volume (Regression coefficient -3187 mm3, 95% CI -5510, -864 mm3). There was a trend for increased lateral patella cartilage volume associated with increased (shallower) sulcus angle (Regression coefficient 43.27 mm3, 95% CI -2.43, 88.98 mm3). Conclusion These results suggest both symptomatic and structural benefits associated with a more medially inclined patella while a high-riding patella may be detrimental to patella cartilage. This provides additional theoretical support for the current use of corrective strategies for patella malalignment that are aimed at medial patella translation, although longitudinal studies will

The associations between indices of patellofemoral geometry and knee pain and patella cartilage volume: a cross-sectional study.

PubMed

Tanamas, Stephanie K; Teichtahl, Andrew J; Wluka, Anita E; Wang, Yuanyuan; Davies-Tuck, Miranda; Urquhart, Donna M; Jones, Graeme; Cicuttini, Flavia M

2010-05-10

Whilst patellofemoral pain is one of the most common musculoskeletal disorders presenting to orthopaedic clinics, sports clinics, and general practices, factors contributing to its development in the absence of a defined arthropathy, such as osteoarthritis (OA), are unclear.The aim of this cross-sectional study was to describe the relationships between parameters of patellofemoral geometry (patella inclination, sulcus angle and patella height) and knee pain and patella cartilage volume. 240 community-based adults aged 25-60 years were recruited to take part in a study of obesity and musculoskeletal health. Magnetic resonance imaging (MRI) of the dominant knee was used to determine the lateral condyle-patella angle, sulcus angle, and Insall-Salvati ratio, as well as patella cartilage and bone volumes. Pain was assessed by the Western Ontario and McMaster University Osteoarthritis Index (WOMAC) VA pain subscale. Increased lateral condyle-patella angle (increased medial patella inclination) was associated with a reduction in WOMAC pain score (Regression coefficient -1.57, 95% CI -3.05, -0.09) and increased medial patella cartilage volume (Regression coefficient 51.38 mm3, 95% CI 1.68, 101.08 mm3). Higher riding patella as indicated by increased Insall-Salvati ratio was associated with decreased medial patella cartilage volume (Regression coefficient -3187 mm3, 95% CI -5510, -864 mm3). There was a trend for increased lateral patella cartilage volume associated with increased (shallower) sulcus angle (Regression coefficient 43.27 mm3, 95% CI -2.43, 88.98 mm3). These results suggest both symptomatic and structural benefits associated with a more medially inclined patella while a high-riding patella may be detrimental to patella cartilage. This provides additional theoretical support for the current use of corrective strategies for patella malalignment that are aimed at medial patella translation, although longitudinal studies will be needed to further substantiate this.

The ''hot'' patella

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kipper, M.S.; Alazraki, N.P.; Feiglin, D.H.

1982-01-01

Increased patellar uptake on bone scans is seen quite commonly but the possible or probable etiologies of this finding have not been previously well described. A review of 100 consecutive bone scans showed that the incidence of bilateral ''hot'' patellae is 15%. Identified etiologies include osteoarthritic degenerative disease (35%), fracture, possible metastatic disease, bursitis, Paget's disease, and osteomyelitis. The value of careful history, physical examination, and radiographs is stressed.

Determination of reference values and frequency of occurrence of patella alta in German shepherd dogs: a retrospective study.

PubMed

Łojszczyk-Szczepaniak, Anna; Silmanowicz, Piotr; Komsta, Renata; Osiński, Zbigniew

2017-05-31

Patella alta and patella baja are important conditions underlying a predisposition to many joint diseases, including patellar luxation and patellar chondromalacia of the articular cartilage. The frequencies of patella alta and patella baja have not yet been determined. The objectives of this study were to determine the frequency of patella alta and to determine reference values to the position of the vertical patella according to two modified techniques of the Insall-Salvati method in a group of 65 German shepherd dogs (115 stifle joints). The upper limits of reference values for the normal vertical position of the patella were 1.79 and 2.13, depending on the method of measurement. A high prevalence of patella alta was observed in the group of German shepherd dogs. A correlation was demonstrated between the classification of dogs' joints in the patella alta group and the multiplied risk of canine hip dysplasia (CHD) through the estimation of odds ratios. Dogs with patella alta were healthy dogs that did not exhibit orthopaedic problems in the stifle joints. The results revealed that the risk of CHD is twice as high in dogs with higher patellar ligament length to patella length ratio.

Hereditary breast cancer: from molecular pathology to tailored therapies.

PubMed

Tan, D S P; Marchiò, C; Reis-Filho, J S

2008-10-01

Hereditary breast cancer accounts for up to 5-10% of all breast carcinomas. Recent studies have demonstrated that mutations in two high-penetrance genes, namely BRCA1 and BRCA2, are responsible for about 16% of the familial risk of breast cancer. Even though subsequent studies have failed to find another high-penetrance breast cancer susceptibility gene, several genes that confer a moderate to low risk of breast cancer development have been identified; moreover, hereditary breast cancer can be part of multiple cancer syndromes. In this review we will focus on the hereditary breast carcinomas caused by mutations in BRCA1, BRCA2, Fanconi anaemia (FANC) genes, CHK2 and ATM tumour suppressor genes. We describe the hallmark histological features of these carcinomas compared with non-hereditary breast cancers and show how an accurate histopathological diagnosis may help improve the identification of patients to be screened for mutations. Finally, novel therapeutic approaches to treat patients with BRCA1 and BRCA2 germ line mutations, including cross-linking agents and PARP inhibitors, are discussed.

Isolated loss of inferior pubic ramus: a case report.

PubMed

Saber, Aly

2008-06-12

It has been stated that regulation of the development of the iliac bone is different from that of the ischium and pubis. There are well-known clinical syndromes concerned with hypoplasia of ischiopubic bone, such as small patella syndrome, nail-patella syndrome, ischiopubic-patellar hypoplasia, and ischiopubic hypoplasia. A fit and otherwise healthy 35-year-old woman presented with pain in the left lower limb of 6 months duration. She sought advice from an orthopedic surgeon and was referred for exclusion of a primary soft tissue neoplasm. There was no history of trauma, chronic medical illness or surgical operations. Full systemic examination, laboratory investigations and whole body imaging showed no soft tissue swelling or any other bony defects. Isolated loss of the left inferior pubic ramus and thinning of the superior pubic ramus were detected, raising the question of whether the lesion was a secondary osteolytic lesion, a primary osteolytic lesion or due to endocrine disease. Isolated loss of the inferior pubic ramus with no concomitant bony or soft tissue anomalies is previously unreported. To the best of the author's knowledge, this finding has not been described previously.

Fixed-angle plates in patella fractures - a pilot cadaver study

PubMed Central

2011-01-01

Objective Modified anterior tension wiring with K-wires and cannulated lag screws with anterior tension wiring are currently the fixation of choice for patellar fractures. Failure of fixation, migration of the wires, postoperative pain and resulting revision surgery, however, are not uncommon. After preliminary biomechanical testing of a new fixed-angle plate system especially designed for fixation of patella fractures the aim of this study was to evaluate the surgical and anatomical feasibility of implanting such a plate-device at the human patella. Methods In six fresh unfixed female cadavers without history of previous fractures around the knee (average age 88.8 years) a bilateral fixed-angle plate fixation of the patella was carried out after previous placement of a transverse central osteotomy. Operative time, intra-operative problems, degree of retropatellar arthritis (following Outerbridge), quality of reduction and existence of any intraarticular screw placement have been raised. In addition, lateral and anteroposterior radiographs of all specimens were made. Results Due to the high average age of 88.8 years no patella showed an unimpaired retropatellar articular surface and all were severely osteoporotic, which made a secure fixation of the reduction forceps during surgery difficult. The operation time averaged 49 minutes (range: 36-65). Although in postoperative X-rays the fracture gap between the fragments was still visible, the analysis of the retropatellar surface showed no residual articular step or dehiscence > 0.5 mm. Also in a total of 24 inserted screws not one intraarticular malposition was found. No intraoperative complications were noticed. Conclusions Osteosynthesis of a medial third patella fracture with a bilateral fixed-angle plate-device is surgically and anatomically feasible without difficulties. Further studies have to depict whether the bilateral fixed-angle plate-osteosynthesis of the patella displays advantages over the established

Patella Resurfacing during Total Knee Arthroplasty: Have We Got the Issue Covered?

PubMed Central

Alao, Uthman; Salamut, Wazirl; Weitzel, Stefan; Skinner, J.A.

2014-01-01

Background Management of the patella during total knee arthroplasty (TKA) is controversial. Multiple studies have examined mechanical and clinical results of TKA with native and resurfaced patellae with no clear consensus. Methods We surveyed a large cohort of consultant surgeons in a questionnaire based study in order to assess the indications for patella resurfacing and to correlate practice with degree of specialization, experience and volume of procedures performed. Results Six hundred and nineteen surgeons were included. The main indication for patella resurfacing was patellofemoral arthritis. The ratio of those who always:sometimes:never resurfaced was 1:2:1 irrespective of experience or volume performed. There was no difference between knee specialists and non-specialists (p = 0.977) or between high and lower volume surgeons (p = 0.826). Senior and high volume surgeons tended to always resurface. Conclusions The majority of surgeons only sometimes resurfaced the patella. The number who always and never resurfaced were similar. There was a tendency for more experienced and high volume surgeons to always resurface. PMID:25436059

Morphological clues to the appropriate recognition of hereditary renal neoplasms.

PubMed

Moch, Holger; Ohashi, Riuko; Gandhi, Jatin S; Amin, Mahul B

2018-05-01

An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma. Awareness of these clinically distinctive sub-types and their associated histologic clues will prompt the pathologist for further immunohistochemical or molecular work up, to look for clinical information to support the suspected diagnosis of familial cancer, to alert managing physician/s to look for stigmata of history of familial cancer, which will permit triaging patients and their families for appropriate genetic counseling. This review provides a comprehensive review of the known sub-types of renal cell carcinoma that have a predilection to occur in the setting of hereditary disease; examples include renal cancers occurring in the background of von Hippel Lindau disease, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis, Birt Hogg Dube syndrome and succinate dehydrogenase deficiency. Herein we focus on diagnostic clues for renal tumors occurring in a non-pediatric setting that should prompt their correct recognition and reiterate the importance of the correct diagnosis. Copyright © 2018 Elsevier Inc. All rights reserved.

Genetics Home Reference: hereditary neuropathy with liability to pressure palsies

MedlinePlus

... PubMed Central Yilmaz U, Bird TT, Carter GT, Wang LH, Weiss MD. Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome? Muscle Nerve. 2015 Mar;51(3):385-90. doi: 10.1002/ ...

Patella Fractures Prior to Total Knee Arthroplasty: Worse Outcomes but Equivalent Survivorship.

PubMed

Houdek, Matthew T; Shannon, Steven F; Watts, Chad D; Wagner, Eric R; Sems, Stephen A; Sierra, Rafael J

2015-12-01

Distal femur and/or tibial plateau fractures adversely affect outcomes of TKA; however it is unknown if a previous patella fracture affects outcome. We reviewed 113 patients undergoing TKA with a previous patella fracture from 1990 to 2012. Component survival was compared to 19,641 patients undergoing TKA for osteoarthritis during the same period. The 15-year implant survivals following a previous patella fracture was 86%. There was no difference in implant survival compared to patients undergoing TKA for OA (P=0.31). Knee society scores significantly improved following TKA; however patients with a fracture had complications related to knee flexion. Patients undergoing primary TKA following a patella fracture have similar overall revision free survival compared to those undergoing TKA for OA at 15-years. Copyright © 2015 Elsevier Inc. All rights reserved.

Intramedullary nailing of humeral shaft fractures.

PubMed

Pickering, Robert M; Crenshaw, Andrew H; Zinar, Daniel M

2002-01-01

The development of interlocking humeral nail systems has greatly broadened the indications for nailing of humeral shaft fracture. Rotational control is better than with earlier nail systems, and most nails have an oblong distal hole that allows axial loading of the fracture site with muscle contraction. When nailing is done with closed technique, loss of the fracture hematoma and periosteal stripping are avoided. Even when open reduction is required, periosteal stripping can be kept to a minimum. Surgical wounds are smaller, even when open reduction is necessary, and when closed nailing is done, bone grafting is unnecessary. Intramedullary nails are ideal for segmental fractures, pathologic fractures, and fractures in osteopenic bone. Because the arm usually is not a weight-bearing extremity, hardware failure is rare and union rates are equivalent to those of compression plate and screw fixation. Compression plates and external fixation certainly have their place for some fracture patterns and for severe wounds that are unsuitable for intramedullary nailing. The surgeon should be well versed in all three techniques and should be able to rapidly choose among these, depending upon the fracture pattern, skin wound, associated injuries, and overall condition of the patient.

EPR spectroscopic investigation of psoriatic finger nails.

PubMed

Nakagawa, Kouichi; Minakawa, Satoko; Sawamura, Daisuke

2013-11-01

Nail lesions are common features of psoriasis and found in almost half of the patients. However, there is no feasible spectroscopic method evaluating changes and severity of nail psoriasis. EPR (electron paramagnetic resonance) might be feasible for evaluating nail conditions in the patients of psoriasis. Finger nails of five cases with nail psoriasis, (three females and two males) were examined. Nail samples were subjected to the EPR assay. The small piece of the finger nail (1.5 × 5 mm(2)) was incubated in ~50 μM 5-DSA (5-doxylstearic acid) aqueous solutions for about 60 min at 37°C. After rinsing and wiping off the excess 5-DSA solution, the nail samples were measured by EPR. EPR spectra were analyzed using the intensity ratio (Fast/Slow) of the two motions at the peaks of the lower magnetic field. We observed two distinguishable sites on the basis of the EPR results. In addition, the modern EPR calculation was performed to analyze the spectra obtained. The nail psoriasis-related region is 2~3 times higher than that of the control. The present EPR results show that there are two distinguishable sites in the nail. In the case of nail psoriasis, the fragile components are 2~3 times more than those of the control. Thus, the EPR method is thought to be a novel and reliable method of evaluating the nail psoriasis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

PubMed

Fruhman, Gary; Landsverk, Megan L; Lotze, Timothy E; Hunter, Jill V; Wangler, Michael F; Adesina, Adekunle M; Wong, Lee-Jun C; Scaglia, Fernando

2011-06-01

Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations. Copyright © 2011 Elsevier Inc. All rights reserved.

Biomechanical investigation of a novel ratcheting arthrodesis nail.

PubMed

McCormick, Jeremy J; Li, Xinning; Weiss, Douglas R; Billiar, Kristen L; Wixted, John J

2010-10-14

Knee or tibiotalocalcaneal arthrodesis is a salvage procedure, often with unacceptable rates of nonunion. Basic science of fracture healing suggests that compression across a fusion site may decrease nonunion. A novel ratcheting arthrodesis nail designed to improve dynamic compression is mechanically tested in comparison to existing nails. A novel ratcheting nail was designed and mechanically tested in comparison to a solid nail and a threaded nail using sawbones models (Pacific Research Laboratories, Inc.). Intramedullary nails (IM) were implanted with a load cell (Futek LTH 500) between fusion surfaces. Constructs were then placed into a servo-hydraulic test frame (Model 858 Mini-bionix, MTS Systems) for application of 3 mm and 6 mm dynamic axial displacement (n = 3/group). Load to failure was also measured. Mean percent of initial load after 3-mm and 6-mm displacement was 190.4% and 186.0% for the solid nail, 80.7% and 63.0% for the threaded nail, and 286.4% and 829.0% for the ratcheting nail, respectively. Stress-shielding (as percentage of maximum load per test) after 3-mm and 6-mm displacement averaged 34.8% and 28.7% (solid nail), 40.3% and 40.9% (threaded nail), and 18.5% and 11.5% (ratcheting nail), respectively. In the 6-mm trials, statistically significant increase in initial load and decrease in stress-shielding for the ratcheting vs. solid nail (p = 0.029, p = 0.001) and vs. threaded nail (p = 0.012, p = 0.002) was observed. Load to failure for the ratcheting nail; 599.0 lbs, threaded nail; 508.8 lbs, and solid nail; 688.1 lbs. With significantly increase of compressive load while decreasing stress-shielding at 6-mm of dynamic displacement, the ratcheting mechanism in IM nails may clinically improve rates of fusion.

Biomechanical investigation of a novel ratcheting arthrodesis nail

PubMed Central

2010-01-01

Background Knee or tibiotalocalcaneal arthrodesis is a salvage procedure, often with unacceptable rates of nonunion. Basic science of fracture healing suggests that compression across a fusion site may decrease nonunion. A novel ratcheting arthrodesis nail designed to improve dynamic compression is mechanically tested in comparison to existing nails. Methods A novel ratcheting nail was designed and mechanically tested in comparison to a solid nail and a threaded nail using sawbones models (Pacific Research Laboratories, Inc.). Intramedullary nails (IM) were implanted with a load cell (Futek LTH 500) between fusion surfaces. Constructs were then placed into a servo-hydraulic test frame (Model 858 Mini-bionix, MTS Systems) for application of 3 mm and 6 mm dynamic axial displacement (n = 3/group). Load to failure was also measured. Results Mean percent of initial load after 3-mm and 6-mm displacement was 190.4% and 186.0% for the solid nail, 80.7% and 63.0% for the threaded nail, and 286.4% and 829.0% for the ratcheting nail, respectively. Stress-shielding (as percentage of maximum load per test) after 3-mm and 6-mm displacement averaged 34.8% and 28.7% (solid nail), 40.3% and 40.9% (threaded nail), and 18.5% and 11.5% (ratcheting nail), respectively. In the 6-mm trials, statistically significant increase in initial load and decrease in stress-shielding for the ratcheting vs. solid nail (p = 0.029, p = 0.001) and vs. threaded nail (p = 0.012, p = 0.002) was observed. Load to failure for the ratcheting nail; 599.0 lbs, threaded nail; 508.8 lbs, and solid nail; 688.1 lbs. Conclusion With significantly increase of compressive load while decreasing stress-shielding at 6-mm of dynamic displacement, the ratcheting mechanism in IM nails may clinically improve rates of fusion. PMID:20942976

Sleeve fracture of the adult patella

PubMed Central

Xie, Linjun; Xu, Hong; Zhang, Lizhi; Xu, Rong; Guo, Yingkun

2017-01-01

Abstract Rationale: The patellar fractures are common in adults, but rare in children. As a particular type of patellar fracture, however, sleeve fractures are almost always limited to children in the under 16's group. Patient concerns: Herein, we report a rare case of a 19-year-old healthy adult female who presented sleeve fracture at the superior pole of the left patella. The clinical and radiological features are found including joint effusion, anterior tilt of the patella and a shell of bone lying proximally to the patella. Diagnoses: Computed tomography and magnetic resonance imaging examination have been performed to further confirm the diagnosis of sleeve fracture, rupture of the quadriceps tendon and the cartilaginous injury. Interventions: Under general anaesthesia, she underwent open surgical procedures for reconstituting anatomically the fracture and repairing the rupture of the quadriceps tendon. Outcomes: Six months after the operation, she could fully use her left knee without any pain and disability. Lessons: Sleeve fractures of the patellar in adults are extremely rare, and our case is of interest for the first time occurring in healthy female adults. Our case report and literature review was aim to describe the clinic and imaging characteristics of superior pole sleeve fractures in adults, and highlight that physicians must be aware of this entity in adults so as to reduce misdiagnosis due to unfamiliarity. PMID:28796028

Evaluation of anterior knee pain in a PS total knee arthroplasty: the role of patella-friendly femoral component and patellar size.

PubMed

Atzori, F; Sabatini, L; Deledda, D; Schirò, M; Lo Baido, R; Baido, R L; Massè, A

2015-04-01

Total knee arthroplasty gives excellent objective results. Nevertheless, the subjective findings do not match the normal knee perception: Often, it depends on patellar pain onset. In this study, we analyzed clinical and radiological items that can affect resurfaced patellar tracking, and role of a patella-friendly femoral component and patellar size on patellar pain onset. Thirty consecutive patients were implanted using the same-cemented posterior-stabilized TKA associated with patella resurfacing. Fifteen patients were implanted using a classical femoral component, while another 15 patients were implanted using a patella-friendly femoral component. The statistical analysis was set to detect a significant difference (p < 0.05) in clinical and radiological outcomes related to several surgical parameters. Clinical and functional outcomes were recorded using the Knee Society Scoring System (KSS) and patellar pain with the Burnett questionnaire. Mean follow-up was 25 months. KSS results were excellent in both groups. Group 2 (patella-friendly femoral model) reached a higher percentage of 100 points in the clinical and functional KSS, but there was no statistical difference. Also, no statistical differences for Burnett Questionnaire results were recorded. We had one case of patellar clunk syndrome in the standard femoral component group and one poor result in the second group. Postoperative radiographic measurements evidenced no statistical differences in both groups. In group 1 (classical femoral component), better significant result (p < 0.05) war recorded at clinical evaluation according to the Knee Society Scoring System (KSS) in case of wider patellar component resurfaced. The present study reveals no statistically significant difference in the incidence of anterior knee pain between classical and "patella-friendly" femoral components. With the particular type of implant design utilized in this study, when the classical femoral component is used, bigger

Analysis of Impingement between Patella Bone and Bearing Post in Cruciate-Substituting High-Flexion Total Knee Arthroplasty

PubMed Central

Chon, Jegyun; Shin, Sangyeop; Jang, Gunil; Jeon, Taehyeon

2016-01-01

Background We investigated the causes of impingement between the patella bone and the bearing post during high flexion in cruciate-substituting total knee arthroplasty and proposed a treatment strategy. Methods This prospective cohort study included 218 cases that had undergone cruciate-substituting total knee arthroplasty from February 2014 to January 2015; a single surgeon performed the operation using the same method without patellar resurfacing in all patients. Results In these patients, the occurrence of impingement was determined by performing more than 120° high knee flexion after inserting a bearing perioperatively. The incidence of impingement was significantly associated with bearing design, femoral implant size, patella bone length, and patella inferior pole angle (p < 0.05). The impingement was resolved by resection of the lower articular side of the patella bone. Conclusions In the cruciate-substituting high-flexion total knee arthroplasty, impingement between the patella bone and bearing post was more common in patients with mobile bearing, small-size femoral component, and a long patella or a large inferior pole angle. In cases of intraoperative impingement between the patella bone and the bearing post, resection in the lower portion of the patella prevented impingement of the bearing with soft tissue or the patella by widening the space between the patella and the bearing post, which in turn prevented postoperative reduction in range of motion. PMID:27247740

Analysis of Impingement between Patella Bone and Bearing Post in Cruciate-Substituting High-Flexion Total Knee Arthroplasty.

PubMed

Chon, Jegyun; Lee, Bongju; Shin, Sangyeop; Jang, Gunil; Jeon, Taehyeon

2016-06-01

We investigated the causes of impingement between the patella bone and the bearing post during high flexion in cruciate-substituting total knee arthroplasty and proposed a treatment strategy. This prospective cohort study included 218 cases that had undergone cruciate-substituting total knee arthroplasty from February 2014 to January 2015; a single surgeon performed the operation using the same method without patellar resurfacing in all patients. In these patients, the occurrence of impingement was determined by performing more than 120° high knee flexion after inserting a bearing perioperatively. The incidence of impingement was significantly associated with bearing design, femoral implant size, patella bone length, and patella inferior pole angle (p < 0.05). The impingement was resolved by resection of the lower articular side of the patella bone. In the cruciate-substituting high-flexion total knee arthroplasty, impingement between the patella bone and bearing post was more common in patients with mobile bearing, small-size femoral component, and a long patella or a large inferior pole angle. In cases of intraoperative impingement between the patella bone and the bearing post, resection in the lower portion of the patella prevented impingement of the bearing with soft tissue or the patella by widening the space between the patella and the bearing post, which in turn prevented postoperative reduction in range of motion.

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

PubMed Central

Castori, Marco

2012-01-01

Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists. PMID:23227356

Ewing's sarcoma of the patella.

PubMed

Gorelik, Natalia; Dickson, Brendan C; Wunder, Jay S; Bleakney, Robert

2013-05-01

Ewing's sarcoma is a relatively rare malignancy, occurring mainly between 4 and 25 years of age. It usually arises from the pelvis, followed by the femur, tibia, and remainder of both the long bones of the extremities and flat bones of the axial skeleton. To the best of our knowledge, Ewing's sarcoma of the patella has never been reported previously. Patellar tumors occur infrequently and represent an uncommon etiology of anterior knee pain. We describe the rare case of a 41-year-old man who presented with a 3-4 month history of escalating right anterior knee pain and swelling. Imaging demonstrated an aggressive patellar tumor with an adjacent soft tissue mass. The diagnosis of Ewing's sarcoma was confirmed by pathology. Physicians should be aware of atypical locations for Ewing's sarcoma and, conversely, of rare tumors arising in the patella and accounting for anterior knee pain. Early recognition of such malignancies allows prompt initiation of treatment, hence improving prognosis.

[Patella fractures in knee arthroplasty].

PubMed

Roth, A; Ghanem, M; Fakler, J

2016-05-01

Periprosthetic patella fractures occur both with and without retropatellar joint replacement. A non-operative treatment yields satisfactory results with low morbidity. It can be applied in minimally displaced fractures that have an intact retropatellar component and an intact extensor mechanism, combined with an initial immobilization. The surgical treatment is associated with relatively poor results and with high complication rates. There was only minor improvement of functional results, no matter which surgical technique was used. Surgical intervention is still required in fractures with a loosening of the patellar component, considerable dislocations of fragments, and damage to or rupture of the extensor mechanism. In particular, type II fractures require repair of the extensor mechanism and the fracture or patellectomy. Type III fractures require a revision or resection of the patella, a patelloplasty or total patellectomy. In addition, early or late reconstruction using allograft to restore the extensor mechanism can be taken in consideration.

Influence of the intramedullary nail preparation method on nail's mechanical properties and degradation rate.

PubMed

Morawska-Chochół, Anna; Chłopek, Jan; Szaraniec, Barbara; Domalik-Pyzik, Patrycja; Balacha, Ewa; Boguń, Maciej; Kucharski, Rafael

2015-06-01

When it comes to the treatment of long bone fractures, scientists are still investigating new materials for intramedullary nails and different manufacturing methods. Some of the most promising materials used in the field are resorbable polymers and their composites, especially since there is a wide range of potential manufacturing and processing methods. The aim of this work was to select the best manufacturing method and technological parameters to obtain multiphase, and multifunctional, biodegradable intramedullary nails. All composites were based on a poly(l-lactide) matrix. Either magnesium alloy wires or carbon and alginate fibres were introduced in order to reinforce the nails. The polylactide matrix was also modified with tricalcium phosphate and gentamicin sulfate. The composite nails were manufactured using three different methods: forming from solution, injection moulding and hot pressing. The effect of each method of manufacturing on mechanical properties and degradation rate of the nails was evaluated. The study showed that injection moulding provides higher uniformity and homogeneity of the particle-modified polylactide matrix, whereas hot pressing favours applying higher volume fractions of fibres and their better impregnation with the polymer matrix. Thus, it was concluded that the fabrication method should be individually selected dependently on the nail's desired phase composition. Copyright © 2015 Elsevier B.V. All rights reserved.

Is Electrocautery of Patella Useful in Patella Non-Resurfacing Total Knee Arthroplasty?: A Prospective Randomized Controlled Study.

PubMed

Kwon, Sae Kwang; Nguku, Levis; Han, Chang Dong; Koh, Yong-Gon; Kim, Dong-Wook; Park, Kwan Kyu

2015-12-01

There is controversy over the need for electrocauterization of the patella in non-resurfacing total knee arthroplasty (TKA). We investigated whether this procedure is beneficial through a prospective randomized controlled trial. Fifty patients who underwent electrocautery were compared with 50 patients who did not undergo this procedure. We determined cartilage status, preoperative and postoperative American Knee Society (AKS) score, the Western Ontario and McMaster Universities score (WOMAC) and the Patellofemoral (PF) scores for a minimum of 5 years. The two groups did not differ significantly in demographics, intraoperative cartilage status, or preoperative or postoperative outcomes. No complications were detected in either group. We found no benefits of electrocautery of the patella in patellar non-resurfacing TKA up to 5 years. Copyright © 2015 Elsevier Inc. All rights reserved.

Low Profile Mesh Plating for Patella Fractures: Video of a Novel Surgical Technique.

PubMed

Verbeek, Diederik O; Hickerson, Lindsay E; Warner, Stephen J; Helfet, David L; Lorich, Dean G

2016-08-01

Patella fractures can be challenging to treat particularly in the presence of inferior pole comminution. In this video we present a novel surgical technique for the treatment of patella fractures using a small fragment low profile mesh plate. Key points are the surgical exposure with direct visualization of the articular reduction, the preparation of the mesh plate to accommodate patellar anatomy and the augmentation of the construct using Krackow sutures to address inferior pole comminution. Low profile mesh plating allows for multiplanar fixation of patella fractures while avoiding implant and fixation problems related to tension band fixation. Our early experience with this technique is encouraging and it appears that this technique is useful for the treatment of the majority of patella fractures.

Genetics Home Reference: nonsyndromic congenital nail disorder 10

MedlinePlus

... Nails MalaCards: nail disorder, nonsyndromic congenital, 10 Merck Manual Consumer Version: Deformities, Dystrophies, and Discoloration of the Nails Orphanet: Autosomal recessive nail dysplasia Patient Support ...

Investigation of Human Nail Microstructure with Ultrasound

NASA Astrophysics Data System (ADS)

Maeva, A. R.; Bakulin, E. Y.; Denisova, L. A.; Maev, R. Gr.

Investigation of a human fingernail and the extraction of the data on its microstructure and elastic properties is important in three main aspects. First of all, various diseases of the nail can be differentiated more precisely; second of all, it is possible to non-invasively track during time the effects of a cosmetic product upon the nail; third of all, because various processes in the organism have a strong influence upon the nail plate growth, the monitoring of the nail morphology and its mechanical properties may be used as additional information for the diagnosis of a number of medical disorders, such as systemic sclerosis, psoriasis, chronic hand eczema, anemia etc. The aim of the present study was to carry out a detailed ultrasound investigation in the high-frequency range (25-50 MHz) of a human nail including micro-anatomical structure imaging and ultrasound velocity evaluation, using B-scans obtained with a scanning acoustic microscope. On the images, exact topology of the nail, nail matrix and the underlying bone have been revealed. Additionally, a certain type of inclined internal layering along the nails of some individuals has been found, which was not reported in previous ultrasonic studies of the nail.

Increased serum cartilage oligomeric matrix protein levels and decreased patellar bone mineral density in patients with chondromalacia patellae

PubMed Central

Murphy, E; FitzGerald, O; Saxne, T; Bresnihan, B

2002-01-01

Background: Chondromalacia patellae is a potentially disabling disorder characterised by features of patellar cartilage degradation. Objective: To evaluate markers of cartilage and bone turnover in patients with chondromalacia patellae. Methods: 18 patients with chondromalacia patellae were studied. Serum cartilage oligomeric matrix protein (s-COMP) and bone sialoprotein (s-BSP) levels were measured by enzyme linked immunosorbent assay (ELISA) and compared with those of age and sex matched healthy control subjects. Periarticular bone mineral density (BMD) of both knee joints was assessed by dual energy x ray absorptiometry (DXA). Results: s-COMP levels were significantly raised in all patients with chondromalacia patellae compared with healthy control subjects (p=0.0001). s-BSP levels did not differ significantly between the groups (p=0.41). BMD of the patella was significantly reduced in patients with chondromalacia patellae compared with the control subjects (p=0.016). In patients with bilateral chondromalacia patellae, BMD of the patella was lower in the more symptomatic knee joint (p=0.005). Changes in periarticular BMD were localised to the patella and were not present in femoral regions. Neither s-COMP (p=0.18) nor s-BSP (p=0.40) levels correlated with patellar BMD. Conclusions: Increased s-COMP levels, reflecting cartilage degradation, and reduced BMD localised to the patella may represent clinically useful markers in the diagnosis and monitoring of patients with chondromalacia patellae. Measures of cartilage degradation did not correlate with loss of patellar bone density, suggesting dissociated pathophysiological mechanisms. PMID:12379520

Increased serum cartilage oligomeric matrix protein levels and decreased patellar bone mineral density in patients with chondromalacia patellae.

PubMed

Murphy, E; FitzGerald, O; Saxne, T; Bresnihan, B

2002-11-01

Chondromalacia patellae is a potentially disabling disorder characterised by features of patellar cartilage degradation. To evaluate markers of cartilage and bone turnover in patients with chondromalacia patellae. 18 patients with chondromalacia patellae were studied. Serum cartilage oligomeric matrix protein (s-COMP) and bone sialoprotein (s-BSP) levels were measured by enzyme linked immunosorbent assay (ELISA) and compared with those of age and sex matched healthy control subjects. Periarticular bone mineral density (BMD) of both knee joints was assessed by dual energy x ray absorptiometry (DXA). s-COMP levels were significantly raised in all patients with chondromalacia patellae compared with healthy control subjects (p=0.0001). s-BSP levels did not differ significantly between the groups (p=0.41). BMD of the patella was significantly reduced in patients with chondromalacia patellae compared with the control subjects (p=0.016). In patients with bilateral chondromalacia patellae, BMD of the patella was lower in the more symptomatic knee joint (p=0.005). Changes in periarticular BMD were localised to the patella and were not present in femoral regions. Neither s-COMP (p=0.18) nor s-BSP (p=0.40) levels correlated with patellar BMD. Increased s-COMP levels, reflecting cartilage degradation, and reduced BMD localised to the patella may represent clinically useful markers in the diagnosis and monitoring of patients with chondromalacia patellae. Measures of cartilage degradation did not correlate with loss of patellar bone density, suggesting dissociated pathophysiological mechanisms.

Failure of total knee arthroplasty with or without patella resurfacing

PubMed Central

2011-01-01

Background and purpose Patella resurfacing during primary total knee arthroplasty (TKA) is disputed and new prosthesis designs have been introduced without documentation of their survival. We assessed the impact on prosthesis survival of patella resurfacing and of prosthesis brand, based on data from the Norwegian Arthroplasty Register. Patients and methods 5 prosthesis brands in common use with and without patella resurfacing from 1994 through 2009 were included n = 11,887. The median follow-up times were 9 years for patella-resurfaced implants and 7 years for implants without patella resurfacing. For comparison of prosthesis brands, also brands in common use with only one of the two treatment options were included in the study population (n = 25,590). Cox regression analyses were performed with different reasons for revision as endpoints with adjustment for potential confounders. Results We observed a reduced overall risk of revision for patella resurfaced (PR) TKAs, but the statistical significance was borderline (RR = 0.84, p = 0.05). At 15 years, 92% of PR and 91% of patella non resurfaced (NR) prostheses were still unrevised. However, PR implants had a lower risk of revision due to pain alone (RR = 0.1, p < 0.001), but a higher risk of revision due to loosening of the tibial component (RR = 1.4, p = 0.03) and due to a defective polyethylene insert (RR = 3.2, p < 0.001). At 10 years, the survival for the reference NR brand AGC Universal was 93%. The NR brands Genesis I, Duracon, and Tricon (RR = 1.4–1.7) performed statistically significantly worse than NR AGC Universal, while the NR prostheses e.motion, Profix, and AGC Anatomic (RR = 0.1–0.7), and the PR prostheses NexGen and AGC Universal (RR = 0.4–0.5) performed statistically significantly better. LCS, NexGen, LCS Complete (all NR), and Tricon, Genesis I, LCS, and Kinemax (all PR) showed no differences in this respect from the reference brand. A lower risk of revision (crude) was found for TKAs

Intramedullary nailing in the treatment of aseptic tibial nonunion.

PubMed

Megas, P; Panagiotopoulos, E; Skriviliotakis, S; Lambiris, E

2001-04-01

Fifty patients suffering from aseptic tibial nonunion underwent reamed intramedullary nailing (I.N.) and were retrospectively reviewed. Thirty-six patients were initially treated with external fixation, six with plate and screws, one with a static I.N., and seven with plaster of Paris. Eighteen of the fractures were initially open (A: 5, B: 6, and C: 7 according to the Gustilo classification). In 34 cases a closed procedure was performed, whereas in sixteen, an opening at the nonunion site was unavoidable either to remove metalwork or realign the fragments. Following failed external fixation, secondary I.N. was performed at least 10 days after removal of the device. Bone grafts from the iliac crest were used in three cases, and a fibular osteotomy was performed in 33. Patients were followed up for an average of 2.5 years after nailing, ranging from 10 months to 7 years. A solid union was achieved in all patients within a period of 6 months. One patient developed late infection, which settled after nail removal and one patient developed impending compartment syndrome which was detected on the first post-operative day and was treated with a fasciotomy. Transient peroneal nerve palsy occurred in one patient and this recovered in 3 months, whereas in nine patients a clinically acceptable deformity was noticed. In conclusion, we believe that reamed intramedullary nailing is a highly effective treatment for aseptic tibial nonunions. Early and late complications are rare and bone graft is rarely needed. The method allows early weight bearing even before solid union occurs, short hospitalisation time and early return to work without external support.

Neglected bilateral congenital dislocation of the patella.

PubMed

Tokgöz, Mehmet Ali; Çavuşoğlu, Ali Turgay; Ayanoğlu, Tacettin; Elma, Tarık; Vural, Abdurrahman

2017-08-01

Congenital dislocation of the patella is a disorder that presents with dysfunction in extensor mechanism. Although congenital dislocation of the patella mostly occurs in children with genetic disorders, it may also occur in totally healthy children, despite rarely. In this article, we report a 16-year-old male patient who referred to our clinic with complaints of gait disturbance, frequent falls, and muscular weakness in lower extremity. The patient had no complaints during walking, but had difficulty in running and walking up and down the stairs. It was observed that the range of motion of the knee joint was completely painless and the quadriceps muscle strength was evaluated as 3/5. An evaluation of computed tomography and magnetic resonance imaging results showed that the patella was dislocated. It became clear with magnetic resonance imaging that extensor mechanism was continuous but patellar tendon was not attached to its anatomical position. Surgical treatment was not planned because the patient did not describe any pain complaint and there was no limitation of joint movement, he could walk without support and without device and also refused to be operated. The choice of treatment should be based on the patient's preference, and pain and functional status.

Are there any advantages in using a distal aiming device for tibial nailing? Comparing the Centro Nailing System with the Unreamed Tibia Nail.

PubMed

Veen, Egbert J D; Ettema, Harmen B; Zuurmond, Rutger G; Mostert, Adriaan K

2011-10-01

The distal locking of an intramedullary tibial nail can be challenging and time consuming when performed freehand. This study was conducted to evaluate if a distal aiming device would reduce surgical time. A case-controlled study was performed between 2007 and 2009 with 30 patients receiving a reamed tibial nail (Centronail) with the use of a distal aiming device and 30 patients who were treated with an Unreamed Tibia Nail (UTN), with freehand distal locking, in the same period. The primary outcome in this study was operative time. Secondary outcomes were the need for fluoroscopy, time to consolidation and complications. Operation time was longer in the Centronail group compared with the UTN group (126 min vs. 96 min, p=0.000). Use of fluoroscopy for distal locking was needed in half of the cases (n=16) using a distal aiming device. No differences were found regarding time to consolidation, time to removal of the nail and complications. The use of an aiming device for distal locking of a tibia nail lengthens operation time rather than reducing it. Fluoroscopy was still needed in about half of the cases. No difference was seen in clinical outcomes. The use of a distal aiming device to lock a tibial nail appears to have no benefit. Copyright © 2011 Elsevier Ltd. All rights reserved.

Nail tic disorders: Manifestations, pathogenesis and management.

PubMed

Singal, Archana; Daulatabad, Deepashree

2017-01-01

Nail tic disorders are classic examples of overlap between the domains of dermatology and psychiatry. They are examples of body-focused repetitive behaviors in which there is an irresistible urge or impulse to perform a certain behavior. The behavior is reinforced as it results in some degree of relief and pleasure. Nail tic disorders are common, yet poorly studied and understood. The literature on nail tic disorders is relatively scarce. Common nail tics include nail biting or onychophagia, onychotillomania and the habit tic deformity. Some uncommon and rare nail tic disorders are onychoteiromania, onychotemnomania, onychodaknomania and bidet nails. Onychophagia is chronic nail biting behavior which usually starts during childhood. It is often regarded as a tension reducing measure. Onychotillomania is recurrent picking and manicuring of the fingernails and/or toenails. In severe cases, it may lead to onychoatrophy due to irreversible scarring of the nail matrix. Very often, they occur in psychologically normal children but may sometimes be associated with anxiety. In severe cases, onychotillomania may be an expression of obsessive-compulsive disorders. Management of nail tic disorders is challenging. Frequent applications of distasteful topical preparations on the nail and periungual skin can discourage patients from biting and chewing their fingernails. Habit-tic deformity can be helped by bandaging the digit daily with permeable adhesive tape. Fluoxetine in high doses can be helpful in interrupting these compulsive disorders in adults. For a complete diagnosis and accurate management, it is imperative to assess the patient's mental health and simultaneously treat the underlying psychiatric comorbidity, if any.

Comparison of patella bone strain between females with and without patellofemoral pain: a finite element analysis study.

PubMed

Ho, Kai-Yu; Keyak, Joyce H; Powers, Christopher M

2014-01-03

Elevated bone principal strain (an indicator of potential bone injury) resulting from reduced cartilage thickness has been suggested to contribute to patellofemoral symptoms. However, research linking patella bone strain, articular cartilage thickness, and patellofemoral pain (PFP) remains limited. The primary purpose was to determine whether females with PFP exhibit elevated patella bone strain when compared to pain-free controls. A secondary objective was to determine the influence of patella cartilage thickness on patella bone strain. Ten females with PFP and 10 gender, age, and activity-matched pain-free controls participated. Patella bone strain fields were quantified utilizing subject-specific finite element (FE) models of the patellofemoral joint (PFJ). Input parameters for the FE model included (1) PFJ geometry, (2) elastic moduli of the patella bone, (3) weight-bearing PFJ kinematics, and (4) quadriceps muscle forces. Using quasi-static simulations, peak and average minimum principal strains as well as peak and average maximum principal strains were quantified. Cartilage thickness was quantified by computing the perpendicular distance between opposing voxels defining the cartilage edges on axial plane magnetic resonance images. Compared to the pain-free controls, individuals with PFP exhibited increased peak and average minimum and maximum principal strain magnitudes in the patella. Additionally, patella cartilage thickness was negatively associated with peak minimum principal patella strain and peak maximum principal patella strain. The elevated bone strain magnitudes resulting from reduced cartilage thickness may contribute to patellofemoral symptoms and bone injury in persons with PFP. © 2013 Published by Elsevier Ltd.

The nail and hair in forensic science.

PubMed

Daniel, C Ralph; Piraccini, Bianca Maria; Tosti, Antonella

2004-02-01

Drugs, chemicals, and biological substances accumulate and are stored in hair and nails where they can be detected and measured. Advantages of analyzing hair and nail samples also include their easy and non-invasive collection, the small sample size required for analysis, and their easy storage at room temperature. We report 3 examples of heavy metal poisoning diagnosed because of the hair or nail symptoms. Drugs and toxins that can be detected in hair and nails are reviewed and the application of hair/nail analysis in general and in forensic medicine is discussed.

Review of end grain nail withdrawal research

Treesearch

Douglas R. Rammer; Samuel L. Zelinka

2004-01-01

This study reviewed the literature on static and impact withdrawal of nails driven into the end grain of wood members. From this, an empirical relationship was created relating the specific gravity of the wood, the diameter of the nail, and the depth of penetration of the nail to the static withdrawal capacity of nails driven into the wood and withdrawn immediately....

Is there a bone-nail specific entry point? Automated fit quantification of tibial nail designs during the insertion for six different nail entry points.

PubMed

Amarathunga, J P; Schuetz, M A; Yarlagadda, K V D; Schmutz, B

2015-04-01

Intramedullary nailing is the standard fixation method for displaced diaphyseal fractures of tibia. Selection of the correct nail insertion point is important for axial alignment of bone fragments and to avoid iatrogenic fractures. However, the standard entry point (SEP) may not always optimise the bone-nail fit due to geometric variations of bones. This study aimed to investigate the optimal entry for a given bone-nail pair using the fit quantification software tool previously developed by the authors. The misfit was quantified for 20 bones with two nail designs (ETN and ETN-Proximal Bend) related to the SEP and 5 entry points which were 5 mm and 10 mm away from the SEP. The SEP was the optimal entry point for 50% of the bones used. For the remaining bones, the optimal entry point was located 5 mm away from the SEP, which improved the overall fit by 40% on average. However, entry points 10 mm away from the SEP doubled the misfit. The optimised bone-nail fit can be achieved through the SEP and within the range of a 5 mm radius, except posteriorly. The study results suggest that the optimal entry point should be selected by considering the fit during insertion and not only at the final position. Copyright © 2015 IPEM. Published by Elsevier Ltd. All rights reserved.

A new MRI grading system for chondromalacia patellae.

PubMed

Özgen, Ali; Taşdelen, Neslihan; Fırat, Zeynep

2017-04-01

Background Chondromalacia patellae is a very common disorder. Although magnetic resonance imaging (MRI) is widely used to investigate patellar cartilage lesions, there is no descriptive MRI-based grading system for chondromalacia patellae. Purpose To propose a new MRI grading system for chondromalacia patellae with corresponding high resolution images which might be useful in precisely reporting and comparing knee examinations in routine daily practice and used in predicting natural course and clinical outcome of the patellar cartilage lesions. Material and Methods High resolution fat-saturated proton density (FS PD) images in the axial plane with corresponding T2 mapping images were reviewed. A detailed MRI grading system covering the deficiencies of the existing gradings has been set and presented on these images. Two experienced observers blinded to clinical data examined 44 knee MR images and evaluated patellar cartilage changes according to the proposed grading system. Inter- and intra-rater validity testing using kappa statistics were calculated. Results A descriptive and detailed grading system with corresponding FS PD and T2 mapping images has been presented. Inter-rater agreement was 0.80 (95% confidence interval [CI], 0.71-0.89). Intra-rater agreements were 0.83 (95% CI, 0.74-0.91) for observer A and 0.79 (95% CI, 0.70-0.88) for observer B (k-values). Conclusion We present a new MRI grading system for chondromalacia patellae with corresponding images and good inter- and intra-rater agreement which might be useful in reporting and comparing knee MRI examinations in daily practice and may also have the potential for using more precisely predicting prognosis and clinical outcome of the patients.

Association between measures of patella height, morphologic features of the trochlea, and patellofemoral joint alignment: the MOST study.

PubMed

Stefanik, Joshua J; Zumwalt, Ann C; Segal, Neil A; Lynch, John A; Powers, Christopher M

2013-08-01

Patellofemoral joint (PFJ) malalignment (lateral patella displacement and tilt) has been proposed as a cause of patellofemoral pain. Patella height and/or the morphologic features of the femoral trochlea may predispose one to patella malalignment. The purposes of our study were to assess the associations among patella height, morphologic features of the trochlea, and measures of PFJ alignment and to determine which measures of patella height and morphologic features of the trochlea were the best predictors of PFJ alignment. Measures of patella height (Insall-Salvati ratio and modified Insall-Salvati ratio), morphologic features of the trochlea (sulcus angle, trochlear angle, lateral trochlear inclination, medial trochlear inclination), and PFJ alignment (bisect offset and patella tilt angle) were assessed in 566 knees from the Multicenter Osteoarthritis Study. Bisect offset was correlated with the Insall-Salvati ratio (r = 0.25) and lateral trochlear inclination (r = -0.38). Patella tilt angle correlated with the trochlear angle (-0.27) and lateral trochlear inclination (-0.32). Linear regression models including the Insall-Salvati ratio and lateral trochlear inclination explained 20% and 11% of the variance in bisect offset and patella tilt angle, respectively. Of the variables measured in the current study, the Insall-Salvati ratio and lateral trochlear inclination were the best predictors of lateral patella displacement and lateral tilt. This knowledge will aid clinicians in the identification of anatomic risk factors for PFJ malalignment and/or PFJ dysfunction.

Intrarater reliability of measuring the patella position by ultrasonography in weight-bearing condition.

PubMed

Chen, Chia Lin; Lo, Chu Ling; Huang, Kai Chu; Huang, Chen Fu

2017-10-01

[Purpose] The aim of this study was to determine the intrarater reliability of using ultrasonography as a measurement tool to assess the patella position in a weight-bearing condition. [Subjects and Methods] Ten healthy adults participated in this study. Ultrasonography was used to assess the patella position during step down with the loading knee in flexion (0° and 20°). The distance between the patella and lateral condyle was measured to represent the patella position on the condylar groove. Two measurements were obtained on the first day and the day after 1 week by the same investigator. [Results] Excellent intrarater reliability, ranging from 0.83 to 0.93, was shown in both conditions. Standard errors of the measurements were 0.5 mm in the straight knee and 0.7 mm in the knee flexion at 20°. Minimal differences in knee flexion at 0° and knee flexion at 20° were 1.5 mm and 1.9 mm, respectively. [Conclusion] Ultrasonography is a reliable assessment tool for evaluating the positional changes of the patella in weight-bearing activities, and it can be easily used by practitioners in the clinical setting.

[Selective training of the vastus medialis muscle using electrical stimulator for chondromalacia patella].

PubMed

Guo, K; Ye, Q; Lin, J; Shen, J; Yang, X

1996-04-01

Chondromalacia patella is closely related with subluxation and tilt of patella, as well as with muscular atrophy of quadriceps, especially in vastus medialis muscle. 364 cases of chondromalacia patella were treated with selective training of the vastus medialis muscle using electrical stimulator in our hospital. 211 cases were followed up after treatment from 6 months to 3 years. Among them excellent and good results were seen in 130 cases (62%), fair results were seen in 69 cases (33%) and no change was seen in 12 cases (5%). Significant reduction of CA (P < 0.01) and LPA (P < 0.001) were observed in all these patients in comparison with their primary angle. We believe that the selective training of the vastus medialis muscle using electrical stimulator is one of the effective methods for the treatment of chondromalacia patella.

[Patella navigation in computer-assisted TKA : Intraoperative measurement of patellar kinematics. Video article].

PubMed

Springorum, H-R; Baier, C; Craiovan, B; Maderbacher, G; Renkawitz, T; Grifka, J; Keshmiri, A

2016-07-01

Patellofemoral maltracking is a relevant problem after total knee arthroplasty (TKA). Patella navigation is a tool that allows real time monitoring of patella tracking. This video contribution demonstrates the technique of patellofemoral navigation and a possible consequence of intraoperative monitoring. A higher postoperative lateral tilt is addressed with a widening of the lateral retinaculum in a particular manner. In selected cases of patellofemoral problems, patella navigation is a helpful tool to evaluate patellofemoral tracking intraoperatively. Modifications of implant position and soft tissue measurements can then prevent postoperative patellofemoral maltracking.

Hereditary Diffuse Gastric Cancer

MedlinePlus

... Hereditary Diffuse Gastric Cancer Request Permissions Hereditary Diffuse Gastric Cancer Approved by the Cancer.Net Editorial Board , 10/2017 What is hereditary diffuse gastric cancer? Hereditary diffuse gastric cancer (HDGC) is a rare ...

Increased incidence of patella baja after total knee arthroplasty revision for infection.

PubMed

Chen, Antonia F; Tetreault, Matthew W; Levicoff, Eric A; Fedorka, Catherine J; Rothenberg, Adam C; Klatt, Brian A

2014-12-01

The incidence of patella baja in total knee arthroplasty (TKA) revisions for aseptic and septic causes is not well defined. We retrospectively reviewed 101 mobile-bearing TKA revisions performed between 2003 and 2009. Aseptic (n=67) and septic (n=34) revisions were compared for patella baja. A nonarticulating spacer was used as the initial treatment for infected cases. The Insall-Salvati ratio was radiographically measured before surgery (preexplant for septic revisions) and at latest follow-up (postreplant for septic revisions). Mean (SD) Insall-Salvati ratio did not differ between groups before surgery, 1.00 (0.25) for aseptic and 0.96 (0.22) for septic, but differed significantly after surgery, 0.99 (0.23) for aseptic and 0.77 (0.24) for septic. After correcting for preoperative patellar height, there was a statistically significant postoperative difference between aseptic cases, 1.09 (0.19), and septic cases, 0.82 (0.21). There was also a significant difference in mean (SD) postoperative range of motion (ROM) between aseptic cases, 108.0° (20.7°), and septic cases, 92.2° (34.6°), and decreased ROM between cases with patella baja, 95.1° (31.6°) and cases without patella baja, 106.8° (23.6°). TKA revisions done for septic causes using a nonarticulating spacer resulted in a higher incidence of patella baja and decreased ROM.

The lumbar facet arthrosis syndrome. Clinical presentation and articular surface changes.

PubMed

Eisenstein, S M; Parry, C R

1987-01-01

We describe a lumbar facet syndrome in which disabling symptoms are associated with normal or near-normal plain radiographs. Local spinal fusion relieved symptoms in 12 patients; the excised facet joint surfaces showed some of the histological changes seen in chondromalacia patellae and in osteoarthritis of other large joints. The most frequent change was focal full-thickness cartilage necrosis or loss of cartilage with exposure of subchondral bone, but osteophyte formation was remarkably absent in all specimens. We suggest that there are both clinical and histological similarities between the facet arthrosis syndrome and chondromalacia patellae. Facet arthrosis may be a relatively important cause of intractable back pain in young and middle-aged adults.

Intramedullary nailing: experience in 427 patients.

PubMed

Lambiris, E; Tyllianakis, M; Megas, P; Panagiotopoulos, E

1996-01-01

In the Orthopaedic Department in Patras University 427 intramedullary nailings in the lower limbs were performed between 1989 and 1994 and retrospectively reviewed to evaluate the range of complications. One hundred and seventy-two were nailings of the femur; 80 gamma nails mainly for subtrochanteric and intertrochanteric with subtrochanteric extension fractures were included, (total 252/59%); 175 (41%) were nailings of the tibia. Union was achieved in all case. Overall the complication rate in this series was 3.3% (14 cases) and included infection (4 cases), neuropraxia (2 cases), implant failure (5 cases), limb length deficiency (2 cases) and malrotation (1 case).

Unicameral bone cyst of the patella in a young dog.

PubMed

Petazzoni, M; Briotti, F; Beale, B

2015-01-01

This report describes a case of a solitary unicameral patellar bone cyst in a young dog. A five-month-old, male Dobermann Pinscher dog was referred for a 10-day left hindlimb lameness. A mild swelling of the peripatellar soft tissues of the left patella was detected upon physical examination. Signs of pain were elicited upon direct palpation of the patella. Radiographic examination revealed an oval radiolucency within the medullary cavity at the base of the left patella. Radiographic examination, arthroscopy, and histopathology findings supported the diagnosis of a benign patellar bone cyst. The condition was treated by surgical curettage and autogenous bone graft harvested from the ipsilateral proximal tibia. Clinical signs, including lameness and signs of pain upon deep palpation, disappeared three weeks after surgery. Follow-up re-evaluation five years after surgery revealed no recurrence of the cyst and the patient was asymptomatic.

Recommendations regarding splenectomy in hereditary hemolytic anemias

PubMed Central

Iolascon, Achille; Andolfo, Immacolata; Barcellini, Wilma; Corcione, Francesco; Garçon, Loïc; De Franceschi, Lucia; Pignata, Claudio; Graziadei, Giovanna; Pospisilova, Dagmar; Rees, David C.; de Montalembert, Mariane; Rivella, Stefano; Gambale, Antonella; Russo, Roberta; Ribeiro, Leticia; Vives-Corrons, Jules; Martinez, Patricia Aguilar; Kattamis, Antonis; Gulbis, Beatrice; Cappellini, Maria Domenica; Roberts, Irene; Tamary, Hannah

2017-01-01

Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. In light of the priorities identified by the European Hematology Association Roadmap we generated specific recommendations for each disorder, except thalassemia syndromes for which there are other, recent guidelines. Our recommendations are intended to enable clinicians to achieve better informed decisions on disease management by splenectomy, on the type of splenectomy and the possible consequences. As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. PMID:28550188

Radiologically hyperdense zones of the patella seem to be partial osteonecroses subsequent to fracture treatment.

PubMed

Schüttrumpf, Jan Philipp; Behzadi, Cyrus; Balcarek, Peter; Walde, Tim Alexander; Frosch, Stephan; Wachowski, Martin Michael; Stürmer, Klaus Michael; Frosch, Karl-Heinz

2013-10-01

The blood supply to the proximal patella is provided primarily via intraosseous vessels from the inferior patella. Two vascular systems within the patella are distinguished: Tiny arteries penetrate the middle third of the anterior patellar surface via vascular foramina and continue in a proximal direction. Additional vessels enter the patella at its distal pole, between the patellar ligament and the articular surface, and also run proximally. As a result of the double vascular supply to the distal portion and the vulnerable blood supply to the proximal part, localized osteonecroses subsequent to fracture may occur within the patella and nearly exclusively affect the upper portion of the patella. Such focal regions of osteonecrosis may appear radiographically as localized regions of hyperdensity within the patella. The aim of this study was to investigate the extent to which radiologically hyperdense areas, possibly representing localized osteonecrosis, may occur subsequent to surgical treatment of a patella fracture and the influence that they have on the outcome of the fracture. Retrospective analysis of 100 patients who had been treated operatively for a patella fracture from January 1998 to December 2008 was conducted. The subjective pain rating, clinical scores, and patient satisfaction scores were recorded. Existing X-rays were assessed with regard to possible increased radiological dense areas. After an average of 60.61 ( ± 33.88) months, it was possible to perform a clinical follow-up on 60 patients aged 45.48 ( ± 18.51) years. Radiographic follow-up of all patients revealed that nine patients (9%) exhibited a hyperdense area in the proximal patella portion. X-rays showed radiopaque areas between 1 and 2 months after surgery. In seven cases, the radiological finding disappeared after six months. In two patients with persisting radiologically dense areas, bone necrosis was verified by means of magnetic resonance imaging (MRI) examination and a histological

Jadassohn Lewandowsky Syndrome: A Rare Entity

PubMed Central

Prasad, Anupama Manohar; Inakanti, Yugandar; Kumar, Shiva

2015-01-01

Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn–Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth. PMID:26538744

Dermoscopic features of nail psoriasis treated with biologics.

PubMed

Hashimoto, Yuki; Uyama, Miki; Takada, Yuko; Yoshida, Kenji; Ishiko, Akira

2017-05-01

Although psoriatic nail lesions are small, they cause considerable discomfort for patients and adversely affect quality of life. Few studies have evaluated the dermoscopic features of psoriatic nails. The aim of this study was to clarify the dermoscopic features of nail psoriasis and identify those that reflect psoriatic activity. During biologic treatment of psoriasis, six patients with psoriatic nails twice underwent dermoscopic examination, with an interval of 17-42 weeks. We used the modified Nail Psoriasis Severity Index score and Psoriasis Area and Severity Index score to identify and assess dermoscopic features. We identified 10 dermoscopic findings, of which disappearance of diffuse scaling of the nail plate, transverse step-like notches and splinter hemorrhages of the nail bed, and appearance of erythematous borders of the onycholytic area were associated with improvement in Psoriasis Area and Severity Index score. Dermoscopy can detect nail changes during psoriasis treatment and should be used to evaluate treatment success. © 2017 Japanese Dermatological Association.

Hereditary and non-hereditary microangiopathies in the young. An up-date.

PubMed

Ringelstein, E Bernd; Kleffner, Ilka; Dittrich, Ralf; Kuhlenbäumer, Gregor; Ritter, Martin A

2010-12-15

In recent years, a considerable number of new sporadic or hereditary small artery diseases of the brain have been detected which preferably occur in younger age, below 45 years. Cerebral microangiopathies constitute an appreciable portion of all strokes. In middle aged patients, hereditary cerebral small vessel diseases have to be separated from sporadic degenerative cerebral microangiopathy which is mainly due to a high vascular risk load. Features of the following disorders and details how to differentiate them, are reviewed here, namely CADASIL, MELAS, AD-RVLC, HEMID, CARASIL, PADMAL, FABRY, COL4A1-related cerebral small vessel diseases and a Portuguese type of autosomal dominant cerebral small vessel disease (SVDB). The symptomatic overlap of the cerebral microangiopathies include also other distinctive non-hereditary diseases like posterior (reversible) encephalopathy and Susac's syndrome which are also described. Some of the microangiopathies described here are not only seen in the young but also in the elderly. The precise diagnosis has direct therapeutic implications in several of these entities. Cerebral microangiopathies cause recurring strokes and diffuse white matter lesions leading to a broad spectrum of gait disturbances and in most of these disorders cognitive impairment or even vascular dementia in the long term. Often, they also involve the eye, the inner ear or the kidney. Several typical imaging findings from illustrative cases are presented. The order in which these diseases are presented here is not dictated by an inner logic principle, because a genetically or pathophysiologically based classification system of all these entities does not exist yet. Some entities are well established and not unusual, whereas others have only been described in a few cases in total. Copyright © 2010 Elsevier B.V. All rights reserved.

Combined pulmonary involvement in hereditary lysozyme amyloidosis with associated pulmonary sarcoidosis: a case report.

PubMed

McCarthy, Cormac; Deegan, Alexander P; Garvey, John F; McDonnell, Timothy J

2013-12-17

Sarcoidosis is a multisystem inflammatory disorder of unknown cause which can affect any organ system. Autosomal dominant lysozyme amyloidosis is a very rare form of hereditary amyloidosis. The Arg64 variant is extraordinarily rare with each family showing a particular pattern of organ involvement, however while Sicca syndrome, gastrointestinal involvement and renal failure are common, lymph node involvement is very rare. In this case report we describe the first reported case of sarcoidosis in association with hereditary lysozyme amyloidosis.

Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome?

PubMed

Yilmaz, Ugur; Bird, Thomas T; Carter, Gregory T; Wang, Leo H; Weiss, Michael D

2015-03-01

This study characterizes the nature of pain in hereditary neuropathy with liability to pressure palsy (HNPP). This retrospective study was performed to assess duration, nature, location, and intensity of pain on initial presentation of subjects with HNPP, including the degree and type of analgesic medication use and electrodiagnostic characteristics. Subjects who met the American College of Rheumatology criteria for fibromyalgia syndrome (FMS) were also identified. Of 32 HNPP subjects, 24 (75%) had symptoms of pain, and 4 (12%) had pain as an initial symptom. Of subjects who described pain, 9 (28%) reported only musculoskeletal pain, 10 (31%) only neuropathic pain, and 5 (16%) both musculoskeletal and neuropathic pain. All 9 subjects with only musculoskeletal pain met criteria for FMS. Neuropathic and musculoskeletal pain occur commonly in HNPP and may be a presenting symptom. Additionally, HNPP with predominantly musculoskeletal pain may meet criteria for FMS and potentially delay the diagnosis. © 2014 Wiley Periodicals, Inc.

Computational Modelling of Patella Femoral Kinematics During Gait Cycle and Experimental Validation

NASA Astrophysics Data System (ADS)

Maiti, Raman

2016-06-01

The effect of loading and boundary conditions on patellar mechanics is significant due to the complications arising in patella femoral joints during total knee replacements. To understand the patellar mechanics with respect to loading and motion, a computational model representing the patella femoral joint was developed and validated against experimental results. The computational model was created in IDEAS NX and simulated in MSC ADAMS/VIEW software. The results obtained in the form of internal external rotations and anterior posterior displacements for a new and experimentally simulated specimen for patella femoral joint under standard gait condition were compared with experimental measurements performed on the Leeds ProSim knee simulator. A good overall agreement between the computational prediction and the experimental data was obtained for patella femoral kinematics. Good agreement between the model and the past studies was observed when the ligament load was removed and the medial lateral displacement was constrained. The model is sensitive to ±5 % change in kinematics, frictional, force and stiffness coefficients and insensitive to time step.

Computational Modelling of Patella Femoral Kinematics During Gait Cycle and Experimental Validation

NASA Astrophysics Data System (ADS)

Maiti, Raman

2018-06-01

The effect of loading and boundary conditions on patellar mechanics is significant due to the complications arising in patella femoral joints during total knee replacements. To understand the patellar mechanics with respect to loading and motion, a computational model representing the patella femoral joint was developed and validated against experimental results. The computational model was created in IDEAS NX and simulated in MSC ADAMS/VIEW software. The results obtained in the form of internal external rotations and anterior posterior displacements for a new and experimentally simulated specimen for patella femoral joint under standard gait condition were compared with experimental measurements performed on the Leeds ProSim knee simulator. A good overall agreement between the computational prediction and the experimental data was obtained for patella femoral kinematics. Good agreement between the model and the past studies was observed when the ligament load was removed and the medial lateral displacement was constrained. The model is sensitive to ±5 % change in kinematics, frictional, force and stiffness coefficients and insensitive to time step.

A Novel Biological Approach to Treat Chondromalacia Patellae

PubMed Central

Lee, Sang Hee

2013-01-01

Mesenchymal stem cells from several sources (bone marrow, synovial tissue, cord blood, and adipose tissue) can differentiate into variable parts (bones, cartilage, muscle, and adipose tissue), representing a promising new therapy in regenerative medicine. In animal models, mesenchymal stem cells have been used successfully to regenerate cartilage and bones. However, there have been no follow-up studies on humans treated with adipose-tissue-derived stem cells (ADSCs) for the chondromalacia patellae. To obtain ADSCs, lipoaspirates were obtained from lower abdominal subcutaneous adipose tissue. The stromal vascular fraction was separated from the lipoaspirates by centrifugation after treatment with collagenase. The stem-cell-containing stromal vascular fraction was mixed with calcium chloride-activated platelet rich plasma and hyaluronic acid, and this ADSCs mixture was then injected under ultrasonic guidance into the retro-patellar joints of all three patients. Patients were subjected to pre- and post-treatment magnetic resonance imaging (MRI) scans. Pre- and post-treatment subjective pain scores and physical therapy assessments measured clinical changes. One month after the injection of autologous ADSCs, each patient's pain improved 50–70%. Three months after the treatment, the patients' pain improved 80–90%. The pain improvement persisted over 1 year, confirmed by telephone follow ups. Also, all three patients did not report any serious side effects. The repeated magnetic resonance imaging scans at three months showed improvement of the damaged tissues (softened cartilages) on the patellae-femoral joints. In patients with chondromalacia patellae who have continuous anterior knee pain, percutaneous injection of autologous ADSCs may play an important role in the restoration of the damaged tissues (softened cartilages). Thus, ADSCs treatment presents a glimpse of a new promising, effective, safe, and non-surgical method of treatment for chondromalacia patellae

A novel biological approach to treat chondromalacia patellae.

PubMed

Pak, Jaewoo; Lee, Jung Hun; Lee, Sang Hee

2013-01-01

Mesenchymal stem cells from several sources (bone marrow, synovial tissue, cord blood, and adipose tissue) can differentiate into variable parts (bones, cartilage, muscle, and adipose tissue), representing a promising new therapy in regenerative medicine. In animal models, mesenchymal stem cells have been used successfully to regenerate cartilage and bones. However, there have been no follow-up studies on humans treated with adipose-tissue-derived stem cells (ADSCs) for the chondromalacia patellae. To obtain ADSCs, lipoaspirates were obtained from lower abdominal subcutaneous adipose tissue. The stromal vascular fraction was separated from the lipoaspirates by centrifugation after treatment with collagenase. The stem-cell-containing stromal vascular fraction was mixed with calcium chloride-activated platelet rich plasma and hyaluronic acid, and this ADSCs mixture was then injected under ultrasonic guidance into the retro-patellar joints of all three patients. Patients were subjected to pre- and post-treatment magnetic resonance imaging (MRI) scans. Pre- and post-treatment subjective pain scores and physical therapy assessments measured clinical changes. One month after the injection of autologous ADSCs, each patient's pain improved 50-70%. Three months after the treatment, the patients' pain improved 80-90%. The pain improvement persisted over 1 year, confirmed by telephone follow ups. Also, all three patients did not report any serious side effects. The repeated magnetic resonance imaging scans at three months showed improvement of the damaged tissues (softened cartilages) on the patellae-femoral joints. In patients with chondromalacia patellae who have continuous anterior knee pain, percutaneous injection of autologous ADSCs may play an important role in the restoration of the damaged tissues (softened cartilages). Thus, ADSCs treatment presents a glimpse of a new promising, effective, safe, and non-surgical method of treatment for chondromalacia patellae.

Nail gun injuries among construction workers.

PubMed

Dement, John M; Lipscomb, Hester; Li, Leiming; Epling, Carol; Desai, Tejas

2003-05-01

Pneumatic nail guns greatly increase worker productivity and are extensively used in wood frame building construction, with especially high use in residential construction. One surveillance report of nail gun injuries in Washington State has been published; however, other literature consists largely of case reports and case series in trauma journals. The major objective of the current study was to investigate the occurrence of nail gun-associated injuries among construction workers and to identify preventable work-related factors associated with these injuries. Nail gun-related injuries occurring among a cohort of 13,347 carpenters in Ohio who worked union hours during the time period January 1, 1994, until September 30, 1997, were identified by matching the cohort with workers' compensation claims made to the Ohio Bureau of Workers' Compensation. We also analyzed workers' compensation claims for North Carolina Home Builders Association members for the period July 1996-November 1999 to identify nail gun-related injuries. Analyses included stratified analyses of claims by nature and body part injured, calculation of nail gun injury rates, and analyses of free text descriptions of injuries. Overall, nail gun injuries were responsible for 3.9 percent of workers' compensation claims with 8.3 percent to 25.5 percent of claims involving paid lost work time. The overall rate of nail gun injuries (cases per 200,000 work hours) was 0.33 in North Carolina and 0.26 in Ohio, reflecting the greater concentration of wood frame construction workers in the North Carolina population studied. Higher rates of injury were observed for carpenters in North Carolina and among residential carpenters in Ohio. The predominant body part injured was the hands/fingers, with 80 to 89 percent of injuries being nail punctures. Analyses of free text information for puncture injuries found approximately 70 percent of injuries to occur during the framing/sheathing stage of construction. Our data

Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.

PubMed

Vogel, Adam P; Folker, Joanne; Poole, Matthew L

2014-10-28

Hereditary ataxia syndromes can result in significant speech impairment, a symptom thought to be responsive to treatment. The type of speech impairment most commonly reported in hereditary ataxias is dysarthria. Dysarthria is a collective term referring to a group of movement disorders affecting the muscular control of speech. Dysarthria affects the ability of individuals to communicate and to participate in society. This in turn reduces quality of life. Given the harmful impact of speech disorder on a person's functioning, treatment of speech impairment in these conditions is important and evidence-based interventions are needed. To assess the effects of interventions for speech disorder in adults and children with Friedreich ataxia and other hereditary ataxias. On 14 October 2013, we searched the Cochrane Neuromuscular Disease Group Specialized Register, CENTRAL, MEDLINE, EMBASE, CINAHL Plus, PsycINFO, Education Resources Information Center (ERIC), Linguistics and Language Behavior Abstracts (LLBA), Dissertation Abstracts and trials registries. We checked all references in the identified trials to identify any additional published data. We considered for inclusion randomised controlled trials (RCTs) or quasi-RCTs that compared treatments for hereditary ataxias with no treatment, placebo or another treatment or combination of treatments, where investigators measured speech production. Two review authors independently selected trials for inclusion, extracted data and assessed the risk of bias of included studies using the standard methodological procedures expected by The Cochrane Collaboration. The review authors collected information on adverse effects from included studies. We did not conduct a meta-analysis as no two studies utilised the same assessment procedures within the same treatment. Fourteen clinical trials, involving 721 participants, met the criteria for inclusion in the review. Thirteen studies compared a pharmaceutical treatment with placebo (or a

Decreased torque and electromyographic activity in the extensor thigh muscles in chondromalacia patellae.

PubMed

Väätäinen, U; Airaksinen, O; Jaroma, H; Kiviranta, I

1995-01-01

The alterations in thigh muscle properties of chondromalacia patellae patients during isometric and dynamic endurance tests were studied using a variokinetic knee testing system linked to surface EMG. A total of 41 patients (chondromalacia group) with arthroscopically certified chondromalacia of the patella were studied. The control group consisted of 31 healthy adult volunteers with no history of knee pain or trauma. Peak torque values were 21% (p < 0.01) and force output values 25% (p < 0.05) lower on the symptomatic side of the chondromalacia group than in the control group. The decrease in the ratio between integrated EMG (IEMG) and measured force were found in all parts of the quadriceps femoris muscle in patients with chondromalacia of the patella in isometric extension. No change in the normalized IEMG levels of the thigh muscles were found between chondromalacia patients and controls in dynamic endurance test. The severity of the chondromalacia of the patella did not affect the level of electromyographic activation in thigh muscles. The ratio of normalized EMG levels of vastus medialis and vastus lateralis did not differ between the groups. The present study showed that chondromalacia patellae patients have reduced force and electromyographic activation levels of quadriceps femoris muscle. Especially, the explosive strength of the quadriceps femoris muscle is reduced.

A quantitative method for measuring forces applied by nail braces.

PubMed

Erdogan, Fatma G

2011-01-01

Nail bracing is a conservative method used for ingrown nails; however, lack of objective measurements limits its use for various nails. Double-string nail braces with extra metal springs were applied to 12 patients with 21 chronic, thick, and overcurved ingrown nails. Force was measured with a force gauge meter. Treatment was stopped once patients stood on their tiptoes and walked in shoes pain free without braces. A force gauge meter was also used on a model nail to show the forces applied by various nail braces and to compare their pulling forces. After 6 to 10 months of treatment, all of the patients were pain free; 600 to 1,000 centi Newtons of force were applied to the nails. As the width of the nail increased, so did the force. Braces exert more force on larger nails, which may shorten treatment durations. By measuring forces, it may be possible to standardize force and duration of treatment according to variables such as nail thickness, nail width, angle of ingrown nail, and duration of symptoms.

Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes

PubMed Central

Piram, Maryam; Koné-Paut, Isabelle; Lachmann, Helen J; Frenkel, Joost; Ozen, Seza; Kuemmerle-Deschner, Jasmin; Stojanov, Silvia; Simon, Anna; Finetti, Martina; Sormani, Maria Pia; Martini, Alberto; Gattorno, Marco; Ruperto, Nicolino

2014-01-01

Objectives To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndromes (CAPS). Methods In 2010, an international collaboration established the content of a disease activity tool for HRFs. Patients completed a 1-month prospective diary with 12 yes/no items before a clinical appointment during which their physician assessed their disease activity by a questionnaire. Eight international experts in auto-inflammatory diseases evaluated the patient's disease activity by a blinded web evaluation and a nominal group technique consensus conference, with their consensus judgement considered the gold standard. Sensitivity/specificity/accuracy measures and the ability of the score to discriminate active from inactive patients via the best cut-off score were calculated by a receiver operating characteristic analysis. Results Consensus was achieved for 98/106 (92%) cases (39 FMF, 35 CAPS, 14 TRAPS and 10 MKD), with 26 patients declared as having inactive disease and 72 as having active disease. The median total AIDAI score was 14 (range=0–175). An AIDAI cut-off score ≥9 discriminated active from inactive patients, with sensitivity/specificity/accuracy of 89%/92%/90%, respectively, and an area under the curve of 98% (95% CI 96% to 100%). Conclusions The AIDAI score is a valid and simple tool for assessing disease activity in FMF/MKD/TRAPS/CAPS. This tool is easy to use in clinical practice and has the potential to be used as the standard efficacy measure in future clinical trials. PMID:24026675

Arthrodesis of the knee: experience with intramedullary nailing.

PubMed

Incavo, S J; Lilly, J W; Bartlett, C S; Churchill, D L

2000-10-01

Knee arthrodesis using an intramedullary nail has gained acceptance as treatment in difficult cases such as infection after total knee arthroplasty (TKA), neuropathic joint, and obesity. A retrospective review of 22 cases treated at our institution using an intramedullary nail for knee arthrodesis was performed. Deep infection after primary (11) or revision (6) TKA was the most common indication for this procedure. A long intramedullary nail was used in 3 cases, a long nail with a proximal interlocking screw was used in 6 cases, and a customized nail with a valgus bend and a proximal interlocking screw was used in 11 cases. A modular knee fusion nail was used in 1 case. Successful fusion occurred in all cases, although 4 patients required additional surgery. Average operative blood loss was 748 mL, and average time to union was 7 months. Shortening of the extremity averaged 3.2 cm. Tibiofemoral alignment was improved by using a customized valgus nail (average, 3.1 valgus; range, 1-5) when compared with a straight nail (average, 0.2 valgus; range, 3 varus to 3 valgus). No patient developed infection in the hip or ankle region as a result of the long intramedullary nail. Intramedullary nailing is an excellent technique for knee arthrodesis in difficult cases. A customized proximal interlocking nail with 5 degrees to 7 degrees of valgus and 5 degrees of anterior angulation improves tibiofemoral alignment and is straightforward to insert or extract should it be necessary. Stability and pain relief are rapid, and the fusion rate is maximized.

Determining gender by taking measurements from magnetic resonance images of the patella.

PubMed

Yasar Teke, Hacer; Ünlütürk, Özge; Günaydin, Elif; Duran, Semra; Özsoy, Sait

2018-05-08

A key step in making a positive identification in forensic medicine is the establishment of a biological profile, which involves determining factors such as gender, age, ancestry, and stature. The goal of this study was to determine if gender could be established by taking various measurements of the patella taken from magnetic resonance imaging (MRI) images and analyzing the variations by gender. The sample group consisted of 220 patients (110 male and 110 female) whose patella were measured using MRI images of their left knee. Reasons for exclusion were any previous surgery, patella bipartite variation, any fracture in the patella due to trauma or findings of mass or infection. Three measurements - transverse length (TP), craniocaudal length (CC) and anteroposterior length (APP) - were taken off T2-weighted axial and sagittal MRI scans. The program SPSS (Version 21.0) was used to make a descriptive analysis, independent t-test and discriminative analysis. It was found possible to determine gender with an accuracy rate of 91% for females and 87% for males. Since measurements were made individually the accuracy for gender estimation is lower than that seen in other methods. The findings are important in that they show that it is possible to determine gender with a high degree of accuracy using just a few measurements taken from the patella. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

[Treatment of calcaneal fractures with a locking nail (C-Nail)].

PubMed

Pompach, M; Carda, M; Amlang, M; Zwipp, H

2016-06-01

Anatomic reconstruction of the posterior facet by primary stabilization of the calcaneal fracture with a locking nail. All intraarticular calcaneal fractures and unstable two-part fractures independent of the degree of closed/open soft tissue trauma. High perioperative risk, soft tissue infection, beak fracture (type II fracture) and still open apophysis. Anatomic reduction of the posterior facet using a sinus tarsi approach. Reduction and temporary fixation of the sustentacular, tuberosity, and anterior process fragments with 1.8-2.0 mm Kirschner wires. Thereafter, the C-Nail (calcaneus nail) is introduced with its guiding device stabilizing the sustentacular, tuberostity, and anterior process fragments through its three guiding arms with 6 or 7 locking screws. Passive and active motion starts on postoperative day 2. Lymph drains help reduce swelling. Partial weightbearing with 20 kg for 6-8 weeks in the patient's own shoes is recommended. X‑ray controls are done at 4 and 8 weeks as well as after 6 and 12 months. A total of 107 calcaneal fractures treated with the C-Nail between 2011 and 2014 were evaluated according to the AOFAS score 6 months and 1 year after surgery. The measured values were on average 93.0 (range 65-100) points at 6 months and 94.1 (range 75-100) points 12 months after the surgery. Böhler's angle with initial traumatic values of 6.2° (-30 to +13°) improved postoperatively to 31.8°, after 3 months slightly decreased to 29.6°, and after 12 months to 28.3°. There were 2 cases of superficial wound necrosis (1.9 %) and 1 case a deep infection (0.93 %) with need of early C-Nail removal.

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

PubMed

Rudnik-Schöneborn, S; Hehr, U; von Kalle, T; Bornemann, A; Winkler, J; Zerres, K

2009-06-01

Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, mental retardation and facial features. We report on two siblings with the clinical picture of a demyelinating hereditary motor and sensory neuropathy (HMSN), where only the presence of ACC in the younger brother pointed to the diagnosis of Andermann syndrome. Mutation analysis of the KCC3 (SLC12A6) gene showed a compound heterozygous mutation; a maternal missense mutation c.1616G>A (p.G539D) and a paternal splice mutation c.1118+1G>A in both siblings. We hypothesize that mutations of the KCC3 gene may result in non-syndromic childhood onset HMSN.

[Kniest's syndrome (author's transl)].

PubMed

Kniest, W; Leiber, B

1977-12-01

The clinical picture of the Kniest's syndrome is described. The syndrome is a rare hereditary condition with generalized bone dysplasia, disproportional dwarfism, conduction deafness and severe myopia, retinal detachment, cataract and amaurosis.

Longitudinal erythronychia: individual or multiple linear red bands of the nail plate: a review of clinical features and associated conditions.

PubMed

Cohen, Philip R

2011-08-01

Longitudinal erythronychia is a linear red band on the nail plate that originates at the proximal nail fold, traverses the lunula, and extends to the free edge of the nail plate. Longitudinal erythronychia is classified based upon the number of nails affected and the number of red streaks present on each nail as follows: type Ia (monodactylous - single band), type Ib (monodactylous - bifid bands), type IIa (polydactylous - single band), and type IIb (polydactylous - multiple bands). Associated morphologic findings that can be present at the distal tip of the nail with longitudinal erythronychia include fragility, onycholysis, splinter hemorrhage, splitting, subungual keratosis, thinning, and V-shaped nick. Some patients with longitudinal erythronychia seek medical evaluation because of pain in the associated distal digit; however, the linear red nail plate dyschromia is often asymptomatic and the individual is concerned about the cosmetic appearance or distal nail fragility. Longitudinal erythronychia can be a clinical manifestation of an underlying local or systemic condition. Benign tumors (glomus tumor, onychopapilloma, and warty dyskeratoma), malignant neoplasms (malignant melanoma and squamous cell carcinoma), and other conditions (hemiplegia and postsurgical scar) can be associated with monodactylous longitudinal erythronychia or it may be idiopathic or the initial stage of polydactylous longitudinal erythronychia-associated systemic conditions. Polydactylous longitudinal erythronychia is most commonly reported in patients with Darier disease (keratosis follicularis); other associated conditions include acantholytic dyskeratotic epidermal nevus, acantholytic epidermolysis bullosa, acrokeratosis verruciformis of Hopf, amyloidosis, graft-versus-host disease, lichen planus, and pseudobulbar syndrome. Polydactylous longitudinal erythronychia has also been observed as an idiopathic finding. Biopsy of the nail matrix and nail bed may be necessary to establish the

The influence of kinematic conditions and design on the wear of patella-femoral replacements

PubMed Central

Maiti, Raman; Fisher, John; Rowley, Liam

2014-01-01

The success rate of patella-femoral arthroplasty varies between 44% and 90% in 17 years of follow-up. Several studies have been performed previously for assessing the surface wear in the patella-femoral joint. However, they have not included all six degrees of freedom. The aim of this study was to develop a six-axis patella-femoral joint simulator to assess the wear rate for two patellae designs (round and oval dome) at different kinematic conditions. An increase in patellar rotation from 1° to 4° led to a significantly (p<0.049) increased wear rate of round dome from 8.6 mm3/million cycles to 12.3 mm3/million cycles. The wear rate for oval dome increased from 6.3 mm3/million cycles to 14.5 mm3/million cycles. However, the increase was nonsignificant (p>0.08). The increase in wear rate was likely due to the higher cross shear. A decrease in patellar medial lateral displacement from passive to constrained resulted in a nonsignificant reduction in wear (p>0.06). There was no significant difference in wear rate between the two patellae designs (p>0.28). The volumetric wear under all conditions was positively correlated with the level of passive patellar tilt (rho>0.8). This is the first report of preclinical wear simulation of patella-femoral joint in a six-axis simulator under different kinematic conditions. PMID:24477888

A correlative study between prevalence of chondromalacia patellae and sports injury in 4068 students.

PubMed

Zhang, Hui; Kong, Xiang-qing; Cheng, Cong; Liang, Mao-hua

2003-12-01

To study the prevalence of chondromalacia patella among college students and the correlation with sports injury. 354 students from gymnastic department and 429 from nongymnastic department with knee joint pain were selected. 184 students from gymnastic department and 342 from nongymnastic department were checked randomly by a surgeon. 77 patients (37 males, 40 females) from gymnastic department and 119 patients (62 males, 57 females) from nongymnastic department were diagnosed as chondromalacia patellae. The amount of exercise and the occurrence of sports injury were investigated in each student. All data were analyzed with SPSS 10.0 statistical software. The prevalence of chondromalacia patella was 20.1% in female students and 11.6% in male students from gymnastic department, and 5.61% in female students and 4.92% in male students from nongymnastic department. The amount of exercise and the occurrence of sports injury to the knee joint in students from gymnastic department were greater than those from nongymnastic department. In both female and male students, the prevalence of chondromalacia patella is higher in gymnastic department than nongymnastic department. Sports injury is an important cause of chondromalacia patella.

Hereditary cancer genes are highly susceptible to splicing mutations

PubMed Central

Soemedi, Rachel; Maguire, Samantha; Murray, Michael F.; Monaghan, Sean F.

2018-01-01

Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5′ and 3′ splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1, revealed an extremely high rate (77%) of mutations that lead to defective splicing. This finding is confirmed by extending the sampling to five other exons in the MLH1 gene. Further analysis suggests a more general phenomenon of defective splicing driving Lynch Syndrome. Of the 36 mutations tested, 11 disrupted splicing. Furthermore, analyzing past reports suggest that MLH1 mutations in canonical splice sites also occupy a much higher fraction (36%) of total mutations than expected. When performing a comprehensive analysis of splicing mutations in human disease genes, we found that three main causal genes of Lynch Syndrome, MLH1, MSH2, and PMS2, belonged to a class of 86 disease genes which are enriched for splicing mutations. Other cancer genes were also enriched in the 86 susceptible genes. The enrichment of splicing mutations in hereditary cancers strongly argues for additional priority in interpreting clinical sequencing data in relation to cancer and splicing. PMID:29505604

Association between trochlear morphology and chondromalacia patella: an MRI study.

PubMed

Duran, Semra; Cavusoglu, Mehtap; Kocadal, Onur; Sakman, Bulent

This study aimed to compare trochlear morphology seen in magnetic resonance imaging between patients with chondromalacia patella and age-matched control patients without cartilage lesion. Trochlear morphology was evaluated using the lateral trochlear inclination, medial trochlear inclination, sulcus angle and trochlear angle on the axial magnetic resonance images. Consequently, an association between abnormal trochlear morphology and chondromalacia patella was identified in women. In particular, women with flattened lateral trochlea are at an increased risk of patellar cartilage structural damage. Copyright © 2016 Elsevier Inc. All rights reserved.

Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation.

PubMed

Themistocleous, Marios; Giakoumettis, Dimitrios; Mitsios, Andreas; Anagnostopoulos, Christos; Kalyvas, Aristoteles; Koutsarnakis, Christos

2016-01-01

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite advances in diagnostic and surgical methods remains a life threatening medical emergency with high mortality and morbidity rates. In the present report we describe a case of cerebral abscess due to silent pulmonary arteriovenous malformation (AVM) in a young patient previously undiagnosed for hereditary hemorrhagic telangiectasia syndrome (HHT).

A comparison between the patella and the calcaneus using ultrasound velocity and attenuation as predictors of bone mineral density

NASA Astrophysics Data System (ADS)

Han, S. M.; Davis, J.

1997-10-01

The bone mineral density (BMD), ultrasound velocity (UV) and attenuation were examined in sixteen matched sets of human patellae and calcanei. For the sixteen calcanei, BMD was strongly correlated with all ultrasound parameters. Calcaneal UV appeared to be inferior to attenuation in the ability to predict BMD. For the sixteen patellae, the average UV was found to be greater in the superior/inferior direction than in the anterior/posterior and medial/lateral directions. It was found that patella BMD was significantly correlated with each of three directional ultrasound velocities. The relationship between BMD and ultrasound attenuation parameters was not significant in the patella. A comparative study of the two different bone sets demonstrated that the BMDs of the patella and calcaneus were significantly correlated with each other. Ultrasound velocity of calcaneus, measured in the medial/lateral direction, was not significantly associated with any of three directional ultrasound velocities in the patella. Similarly, ultrasound attenuation parameters of calcaneus were not significantly correlated with those of patella. The present study also demonstrated evidence that when predicting BMDs at their respective sites using ultrasound, the calcaneus appeared to be superior to the patella.

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

PubMed

Cardoso, Luís; Stevenson, Mark; Thakker, Rajesh V

2017-12-01

Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT-JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas. Moreover, CDC73 germline mutations occur in 20%-40% of patients with sporadic PC and may reveal unrecognized HPT-JT. This indicates that CDC73 mutations are major driver mutations in the etiology of PCs. However, there is no genotype-phenotype correlation and some CDC73 mutations (e.g., c.679_680insAG) have been reported in patients with sporadic PC, HPT-JT, or FIHP. Other genes involved in sporadic PC include germline MEN1 and rearranged during transfection (RET) mutations and somatic alterations of the retinoblastoma 1 (RB1) and tumor protein P53 (TP53) genes, as well as epigenetic modifications including DNA methylation and histone modifications, and microRNA misregulation. This review summarizes the genetics and epigenetics of the familial syndromic and non-syndromic (sporadic) forms of PC. © 2017 The Authors. Human Mutation published by Wiley Periodicals, Inc.

Bone density in patients with chondromalacia patella.

PubMed

Salehi, Iraj; Khazaeli, Shabnam; Hatami, Parta; Malekpour, Mahdi

2010-06-01

Chondromalacia of the patella is the most common cause of anterior knee pain in young women. The etiology of the disease is not well-understood but the initial lesion is a disorganization of collagenous structures. Since the disease is proposed to be due to generalized constitutional disturbance, we postulated that bony structures could also be involved. To investigate this hypothesis we measured the bone density of 286 patients with the diagnosis of chondromalacia of the patella during a 4-year period using dual energy X-ray absorptiometry (DXA) method. We found a significant number of patients having low bone densities. This problem was more pronounced in men and in younger age groups. We suggest base-line bone density evaluation in all patients, treatment of osteopenia or osteoporosis in select patients and regular follow-ups using DXA.

Hereditary Mixed Polyposis Syndrome

MedlinePlus

... family. For most families with HMPS, a specific gene mutation causing the syndrome cannot be identified, although some ... Most, but not all, people with inherited GREM1 gene mutations are of Ashkenazi Jewish ancestry. How is HMPS ...

The relation between chondromalacia patella and meniscal tear and the sulcus angle/ trochlear depth ratio as a powerful predictor.

PubMed

Resorlu, Hatice; Zateri, Coskun; Nusran, Gurdal; Goksel, Ferdi; Aylanc, Nilufer

2017-01-01

To investigate the relation between chondromalacia patella and the sulcus angle/trochlear depth ratio as a marker of trochlear morphology. In addition, we also planned to show the relationship between meniscus damage, subcutaneous adipose tissue thickness as a marker of obesity, patellar tilt angle and chondromalacia patella. Patients with trauma, rheumatologic disease, a history of knee surgery and patellar variations such as patella alba and patella baja were excluded. Magnetic resonance images of the knees of 200 patients were evaluated. Trochlear morphology from standardized levels, patellar tilt angle, lateral/medial facet ratio, subcutaneous adipose tissue thickness from 3 locations and meniscus injury were assessed by two specialist radiologists. Retropatellar cartilage was normal in 108 patients (54%) at radiological evaluation, while chondromalacia patella was determined in 92 (46%) cases. Trochlear sulcus angle and prepatellar subcutaneous adipose tissue thickness were significantly high in patients with chondromalacia patella, while trochlear depth and lateral patellar tilt angle were low. The trochlear sulcus angle/trochlear depth ratio was also high in chondromalacia patella and was identified as an independent risk factor at regression analysis. Additionally, medial meniscal tear was observed in 35 patients (38%) in the chondromalacia patella group and in 27 patients (25%) in the normal group, the difference being statistically significant (P = 0.033). An increased trochlear sulcus angle/trochlear depth ratio is a significant predictor of chondromalacia patella. Medial meniscus injury is more prevalent in patients with chondromalacia patella in association with impairment in knee biomechanics and the degenerative process.

A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer).

PubMed

Zhu, Viola W; Hinduja, Sanjay; Knezevich, Stevan R; Silveira, William R; DeLozier, Celia D

2017-07-01

Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome. Brian tumors are infrequent, but have been reported in series. Here, we report a case of a 34-year-old Caucasian woman with WHO grade III choroid plexus carcinoma (CPC). Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53. Family history is significant for endometrial cancer in her mother and sister as well as colon cancer in her maternal grandfather suggestive of Lynch syndrome. Site-specific mutational analysis showed the MSH6 mutation (p.R482*) in peripheral lymphocytes. Subsequently we performed immunohistochemical staining of the tumor tissue which demonstrated widespread loss of MSH6 with intact MSH2, MLH1, and PMS2. The diagnosis of Lynch syndrome due to a mutation in MSH6 was therefore established. Our patient elected to have adjuvant radiation to the surgical bed only followed by prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy and is doing very well. To our knowledge, this is the first case report of CPC in an adult patient with a germline MSH6 mutation. We believe our data have provided molecular evidence to suggest that CPC could potentially be part of the Lynch syndrome spectrum. Published by Elsevier B.V.

Tibiotalocalcaneal Arthrodesis Nails: A Comparison of Nails With and Without Internal Compression.

PubMed

Taylor, James; Lucas, Douglas E; Riley, Aimee; Simpson, G Alex; Philbin, Terrence M

2016-03-01

Hindfoot arthrodesis with tibiotalocalcaneal (TTC) intramedullary nails is used commonly when treating ankle and subtalar arthritis and other hindfoot pathology. Adequate compression is paramount to avoid nonunion and fatigue fracture of the hardware. Arthrodesis systems with internal compression have demonstrated superior compression to systems relying on external methods. This study examined the speed of union with TTC fusion nails with internal compression over nails without internal compression. A retrospective review was performed identifying nail type and time to union of the subtalar joint (STJ) and tibiotalar joint (TTJ). A total of 198 patients were included from 2003 to 2011. The median time to STJ fusion without internal compression was 104 days compared to 92 days with internal compression (P = .044). The median time to TTJ fusion without internal compression was 111 days compared to 93 days with internal compression (P = .010). Adjusting for diabetes, there was no significant difference in fusion speed with or without internal compression for the STJ (P = .561) or TTJ (P = .358). Nonunion rates were 24.5% for the STJ and 17.0% for the TTJ with internal compression, and 43.4% for the STJ and 42.1% for the TTJ without internal compression. This difference remained statistically significant after adjusting for diabetes for the TTJ (P = .001) but not for the STJ (P = .194). The intramedullary hindfoot arthrodesis nail was a viable treatment option in degenerative joint disease of the TTC joint. There appeared to be an advantage using systems with internal compression; however, there was no statistically significant difference after controlling for diabetes. Level III, retrospective comparative series. © The Author(s) 2015.

Venting during prophylactic nailing for femoral metastases: current orthopedic practice.

PubMed

Dalgorf, Dustin; Borkhoff, Cornelia M; Stephen, David J G; Finkelstein, Joel; Kreder, Hans J

2003-12-01

Reamed intramedullary nailing, recommended for impending fracture of a femur weakened by bone metastases, causes a rise in intramedullary pressure and increases the risk of a fat embolism syndrome. The pressure can be equalized by the technique of venting--drilling a hole into the distal cortex of the femur. Our objective was to study the current practice of orthopedic surgeons in Ontario with respect to venting during prophylactic intramedullary nailing for an impending femoral fracture due to bone metastases. We mailed a questionnaire to all orthopedic surgeons from the Province of Ontario listed in the 1999 Canadian Medical Directory or on the Canadian Orthopaedic Association membership list, asking if they vent when prophylactically nailing an impending pathologic femoral fracture. The responses were modelled as a function of surgeon volume and year of graduation. Of the 415 surveys mailed, 223 (54%) surgeons responded. Of these, 81% reported having prophylactically treated a femoral metastatic lesion during the previous year; 67% treated 1 to 3 metastatic lesions and 14% treated more than 3; 19% did not treat a metastatic femoral lesion prophylactically. Over two-thirds of surgeons had never considered venting, whereas one-third always or sometimes vented the femoral canal. More recent graduates were 3 times more likely to vent than earlier (before 1980) graduates (odds ratio [OR] = 3.2, 95% confidence interval [CI] 1.6-6.5) as were those who treat a greater number of impending fractures (OR = 1.4, 95% CI 1.1-1.7). Although there is a theoretical rationale for routine venting, there is disagreement among Ontario orthopedic surgeons regarding the use of this technique during prophylactic nailing for femoral metastatic lesions. Prospective evidence will be required to warrant a change in the standard of care.

Functional outcomes after operatively treated patella fractures.

PubMed

LeBrun, Christopher T; Langford, Joshua R; Sagi, H Claude

2012-07-01

To evaluate the midterm functional outcomes of patients with isolated operatively treated patella fractures. Prospective cohort and retrospective clinical and radiographic assessment. A Level I and Level II trauma center. Two hundred forty-one patients underwent operative intervention for a displaced patella fracture between 1991 and 2007. After appropriate exclusions, 110 patients met criteria. A total of 40 (36%) patients with isolated, unilateral, operatively treated patella fractures with minimum 1-year follow-up agreed to participate in this study and return for functional testing. Mean follow-up was 6.5 years (range, 1.25-17 years). Enrolled patients were treated with one of the following methods: standard tension band with Kirschner wires, tension band through 2 cannulated screws, longitudinal anterior banding with cerclage, or partial patellectomy. All enrolled patients were evaluated with the SF-36 and an injury-specific questionnaire (Knee Injury and Osteoarthritis Outcome Scores) and asked to self-report symptomatic hardware. Patients were also evaluated by physical examination assessing range of motion and Biodex bilateral quadriceps isometric and isokinetic comparisons. The mean normalized SF-36 physical composite score and the mean normalized Knee Injury and Osteoarthritis Outcome Scores subscale scores (pain, 71.7; symptoms, 66.3; activities of daily living, 75.1; sport/recreation, 45.2; quality of life, 49.6) were statistically different (P < 0.05) from reference population norms. Removal of symptomatic fixation was required in 52% of the patients treated with osteosynthesis, whereas 38% of those with retained fixation self-reported implant-related pain at least some of the time. Eight patients (20%) had an extensor lag greater than 5°. A restricted range of flexion of greater than 5° was noted in 15 patients (38%) and restricted range of extension of greater than 5° was noted in 6 patients (15%). Biodex dynamometric testing revealed a mean

[Osteoblastoma of the patella (author's transl)].

PubMed

Sicard, A; Touzard, R C; Squalli, S

1979-01-01

Osteoblastoma is a rare bony tumour. Its localisation at the level of the patella seems exceptional. Our case is the third published case. Wide curetage was a failure, and did not permit histological diagnosis. A cure was obtained by patellectomy, after which the diagnosis of the lesion was made without any doubt.

Correlation between subcutaneous knee fat thickness and chondromalacia patellae on magnetic resonance imaging of the knee.

PubMed

Kok, Hong Kuan; Donnellan, John; Ryan, Davinia; Torreggiani, William C

2013-08-01

Chondromalacia patellae is a common cause of anterior knee pain in young patients and can be detected noninvasively with magnetic resonance imaging (MRI). The purpose of our study was to evaluate the correlation between subcutaneous fat thickness around the knee joint on axial MRIs as a surrogate marker of obesity, with the presence or absence of chondromalacia patellae. A retrospective review was conducted of knee MRIs in 170 patients who satisfied the inclusion criteria. Imaging was performed over a 12-month period on a 1.5T MRI system with a dedicated extremity coil. Two radiologists experienced in musculoskeletal imaging assessed each examination in consensus for the presence or absence of chondromalacia patellae and graded positive studies from 0 (absent) to 3 (full cartilage thickness defect). Measurement of subcutaneous knee fat thickness was obtained on the medial aspect of the knee. MRI findings of chondromalacia patellae were present in 33 patients (19.4%), of which, there were 11 grade 1 lesions (33.3%), 9 grade 2 lesions (27.3%), and 13 grade 3 lesions (39.4%). The mean subcutaneous knee fat thickness was significantly higher in the chondromalacia patellae group for all grades compared with the normal group (P < .001), and there was a significant correlation between subcutaneous knee fat thickness and grades of chondromalacia patellae (R = 0.48 [95% confidence interval, 0.38-0.68]; P < .001). Female patients had thicker subcutaneous knee fat and more severe grades of chondromalacia patellae. Subcutaneous knee fat thickness as a surrogate marker of obesity was positively associated with the presence and severity of chondromalacia patellae on MRI. Copyright © 2013 Canadian Association of Radiologists. Published by Elsevier Inc. All rights reserved.

Fixed-angle plate osteosynthesis of the patella - an alternative to tension wiring?

PubMed

Wild, M; Eichler, C; Thelen, S; Jungbluth, P; Windolf, J; Hakimi, M

2010-05-01

The goal of this study is carry out a biomechanical evaluation of the stability of a bilateral, polyaxial, fixed-angle 2.7 mm plate system specifically designed for use on the patella. The results of this approach are then compared to the two currently most commonly used surgical techniques for patella fractures: modified anterior tension wiring with K-wires and cannulated lag screws with anterior tension wiring. A transient biomechanical analysis determining material failure points of all osteosyntheses were conducted on 21 identical left polyurethane foam patellae, which were osteotomized horizontally. Evaluated were load (N), displacement (mm) and run-time (s) as well as elastic modulus (MPa), tensile strength (MPa) and strain at failure (%). With a maximum load capacity of 2396 (SD 492) N, the fixed-angle plate proved to be significantly stronger than the cannulated lag screws with anterior tension wiring (1015 (SD 246) N) and the modified anterior tension wiring (625 (SD 84.9) N). The fixed-angle plate displayed significantly greater stiffness and lower fracture gap dehiscence than the other osteosyntheses. Additionally, osteosynthesis deformation was found to be lower for the fixed-angle plate. A bilateral fixed-angle plate was the most rigid and stable osteosynthesis for horizontal patella fractures with the least amount of fracture gap dehiscence. Further biomechanical trials performed under cycling loading with fresh cadaver specimen should be done to figure out if a fixed-angle plate may be an alternative in the surgical treatment of patella fractures. Copyright 2009 Elsevier Ltd. All rights reserved.

The Use of Mesh Plates for Difficult Fractures of the Patella.

PubMed

Volgas, David; Dreger, Tina K

2017-03-01

Patella fractures present some of the more complicated fracture patterns in orthopaedic trauma care. This is partially due to the small size of the fragments but also the articular nature of each fragment. Fixation methods such as cerclage wiring, excision of smaller fragments, and screw fixation of larger fragments all have their own challenges. Our study examined our Level I trauma center's experience with variable angle locked 2.7 mm titanium plates for treatment of comminuted patella fractures or treatment of patellar nonunion. After Institutional Review Board approval, we used billing records to identify 105 patients who had undergone operative management of a displaced patella fracture between January 2011 and December 2015. We reviewed the radiographs of these patients to identify which patients underwent treatment with a mesh plate. We found 16 patients (6 males and 10 females) who had undergone fixation with a mesh plate; mean age was 47 years. Nine patients underwent primary open reduction internal fixation (ORIF) and seven underwent mesh plate fixation for failed ORIF of a patella fracture. The mean visual analog pain score was 2.75 (range, 0-9). The mean range of motion was 1 degree of extension (range, 0-10 degrees) to 110 degrees of flexion (range, 45-135 degrees). All fractures healed. Five patients required hardware removal for pain. This review illustrates the effectiveness of the locking mesh plate in two challenging clinical scenarios: that of patellar nonunion and comminuted fractures that preclude standard fixation methods. Although multiple options exist for patellar fracture fixation, the titanium mesh locking plate can be an effective option for retaining the patella in the setting of comminution. Further comparative studies should be undertaken to determine which method of treatment may be superior in the treatment of these fractures. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Nail psoriasis masqueraded by secondary infection with Rhodotorula mucilaginosa.

PubMed

Martini, K; Müller, H; Huemer, H P; Höpfl, R

2013-11-01

A 38-year-old man presented with whitish nail changes on all fingers as the sole symptom. The condition had developed within a few days and led to dystrophy of the proximal part of the nail plates. As microscopic examination of nail scrapings demonstrated budding hyphae and the patient working as a teacher reported frequent use of a wet sponge, antifungal therapy was initiated. Subsequent cultures and molecular typing identified Rhodotorula mucilaginosa (formerly R. rubra). This environmental yeast was repeatedly isolated despite of therapy with itraconazole. As no improvement was achieved and testing of the biological activity of the fungus revealed only marginal keratolytic activity, it was considered as a coloniser of a destructed nail matrix. Finally, a biopsy of the nail bed confirmed the diagnosis of nail psoriasis, which rapidly responded to treatment with acitretin and topical calcipotriol/betamethasone cream. Fungal growth in destructed nails masqueraded the underlying disease and may have triggered the psoriatic nail reaction. © 2013 Blackwell Verlag GmbH.

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4.

PubMed

Orlacchio, A; Patrono, C; Gaudiello, F; Rocchi, C; Moschella, V; Floris, R; Bernardi, G; Kawarai, T

2008-05-20

To perform a clinical and genetic study of two large Italian families (RM-36 and RM-51) showing the cardinal clinical features of Silver syndrome (SS), a rare dominantly inherited form of hereditary spastic paraplegia (HSP) complicated by amyotrophy of the small hand muscles. Clinical assessment including neurophysiologic, neuropsychological, and neuroimaging evaluations. Genetic studies included linkage and sequence analyses. Using a genome-wide survey in the RM-36 family, a novel locus (SPG38) has been identified and mapped within the 13.1-cM region on chromosome 4p16-p15 between markers D4S432 and D4S1599. The RM-51 family was linked to the SPG4 locus at 2p21-p24 and sequence analysis of SPG4 showed a novel frameshift mutation p.Asp321GlyfsX6. Clinical examination of the affected members carrying the mutation showed high frequency of additional clinical features including decreased vibration sense, pes cavus, temporal lobe epilepsy, and cognitive impairment. This study demonstrates evidence of a novel locus SPG38 for Silver syndrome (SS) and suggests that genetic defects in SPG4 might lead to broad clinical features overlapped with those of SS.

Heat profiles of laser-irradiated nails

NASA Astrophysics Data System (ADS)

Paasch, Uwe; Nenoff, Pietro; Seitz, Anna-Theresa; Wagner, Justinus A.; Kendler, Michael; Simon, Jan C.; Grunewald, Sonja

2014-01-01

Onychomycosis is a worldwide problem with no tendency for self-healing, and existing systemic treatments achieve disease-free nails in only 35 to 76% of cases. Recently, treatment of nail fungus with a near-infrared laser has been introduced. It is assumed that fungal eradication is mediated by local heat. To investigate if laser treatment has the potential to eradicate fungal hyphae and arthrospores, laser heat application and propagation needs to be studied in detail. This study aimed to measure nail temperatures using real-time videothermography during laser irradiation. Treatment was performed using 808- and 980-nm linear scanning diode lasers developed for hair removal, enabling contact-free homogeneous irradiation of a human nail plate in one pass. Average and peak temperatures increased pass by pass, while the laser beam moved along the nail plates. The achieved mean peak temperatures (808 nm: 74.1 to 112.4°C, 980 nm: 45.8 to 53.5°C), as well as the elevation of average temperatures (808 nm: 29.5 to 38.2°C, 980 nm: 27.1 to 32.6°C) were associated with pain that was equivalent to that of hair removal procedures and was not significantly different for various wavelengths. The linear scanning laser devices provide the benefits of contact-free homogeneous heating of the human nail while ensuring adequate temperature rises.

Heat profiles of laser-irradiated nails.

PubMed

Paasch, Uwe; Nenoff, Pietro; Seitz, Anna-Theresa; Wagner, Justinus A; Kendler, Michael; Simon, Jan C; Grunewald, Sonja

2014-01-01

Onychomycosis is a worldwide problem with no tendency for self-healing, and existing systemic treatments achieve disease-free nails in only 35 to 76% of cases. Recently, treatment of nail fungus with a near-infrared laser has been introduced. It is assumed that fungal eradication is mediated by local heat. To investigate if laser treatment has the potential to eradicate fungal hyphae and arthrospores, laser heat application and propagation needs to be studied in detail. This study aimed to measure nail temperatures using real-time videothermography during laser irradiation. Treatment was performed using 808- and 980-nm linear scanning diode lasers developed for hair removal, enabling contact-free homogeneous irradiation of a human nail plate in one pass. Average and peak temperatures increased pass by pass, while the laser beam moved along the nail plates. The achieved mean peak temperatures (808 nm: 74.1 to 112.4°C, 980 nm: 45.8 to 53.5°C), as well as the elevation of average temperatures (808 nm: 29.5 to 38.2°C, 980 nm: 27.1 to 32.6°C) were associated with pain that was equivalent to that of hair removal procedures and was not significantly different for various wavelengths. The linear scanning laser devices provide the benefits of contact-free homogeneous heating of the human nail while ensuring adequate temperature rises.

Nails in Forensic Toxicology: An Update.

PubMed

Solimini, Renata; Minutillo, Adele; Kyriakou, Chrystalla; Pichini, Simona; Pacifici, Roberta; Busardo, Francesco Paolo

2017-01-01

The analysis of nails as a keratinized matrix to detect drugs or illicit substances has been increasingly used in forensic and clinical toxicology as a complementary test, especially for the specific characteristics of stably accumulating substances for long periods of time. This allows a retrospective investigation of chronic drug abuse, monitoring continuous drug or pharmaceutical use, reveal in utero drug exposure or environmental exposures. We herein review the recent literature investigating drug incorporation mechanisms and drug detection in nails for forensic toxicological purposes. Mechanisms of drug incorporation have not yet been fully elucidated. However, some research has lately contributed to a better understanding of how substances are incorporated into nails, suggesting three potential mechanisms of drug incorporation: contamination from sweat, incorporation from nail bed and incorporation from germinal matrix. In addition, numerous methods dealing with the determination of drugs of abuse, medications and alcohol biomarkers in nails have been reported in studies over the years. The latter methods could find application in clinical and forensic toxicology. The studies herein reviewed point out how important it is to standardize and harmonize the methodologies (either pre-analytical or analytical) for nails analysis and the optimization of sampling as well as the development of proficiency testing programs and the determination of cut-off values. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Defining the lateral and accessory views of the patella: an anatomic and radiographic study with implications for fracture treatment.

PubMed

Berkes, Marschall B; Little, Milton T M; Pardee, Nadine C; Lazaro, Lionel E; Helfet, David L; Lorich, Dean G

2013-12-01

The majority of orthopaedic surgeons rely on a lateral fluoroscopic image to assess reduction during patella fracture osteosynthesis. However, a comprehensive radiographic description of the lateral view of the patella has not been performed previously, and no accessory views to better visualize specific anatomic features have been developed. The purpose of this study was to provide a detailed anatomic description of all radiographic features of the true lateral of the patella, describe reproducible accessory views for assessing specific features of the patella, and demonstrate their utility in a fracture model. Twelve cadaver knee specimens free of patellofemoral pathology were used, and imaging was performed using standard C-arm fluoroscopy. For each specimen, a true lateral radiographic projection of the patella was obtained and distinct features were noted. Next, an arthrotomy was made and steel wire was contoured and fixed to various anatomic regions of the patella so as to obliterate the radiographic densities on the true lateral projection, thus confirming their anatomic correlation. Ideal views of the lateral and medial facets themselves were determined using radiographic markers and varying amounts of internal or external rotation of the specimen. Last, a transverse osteotomy was created in each patella and the ability of the true lateral and accessory views to detect malreduction was assessed. The true lateral projection of the patella was obtained with the limb in neutral alignment. Constant radiographic features of the lateral view of the patella include the articular tangent, a secondary articular density of variable length, and a dorsal cortical density. The articular tangent was produced by the central ridge between the medial and lateral facets in all specimens. The secondary articular density was created by a confluence of the edge of the lateral and edge of the medial facets in 5 patellas, a confluence of the edge of the lateral facet and the

Features of ovarian cancer in Lynch syndrome (Review).

PubMed

Nakamura, Kanako; Banno, Kouji; Yanokura, Megumi; Iida, Miho; Adachi, Masataka; Masuda, Kenta; Ueki, Arisa; Kobayashi, Yusuke; Nomura, Hiroyuki; Hirasawa, Akira; Tominaga, Eiichiro; Aoki, Daisuke

2014-11-01

Lynch syndrome is a hereditary ovarian cancer with a prevalence of 0.9-2.7%. Lynch syndrome accounts for 10-15% of hereditary ovarian cancers, while hereditary breast and ovarian cancer syndrome accounts for 65-75% of these cancers. The lifetime risk for ovarian cancer in families with Lynch syndrome is ~8%, which is lower than colorectal and endometrial cancers, and ovarian cancer is not listed in the Amsterdam Criteria II. More than half of sporadic ovarian cancers are diagnosed in stage III or IV, but ≥80% of ovarian cancers in Lynch syndrome are diagnosed in stage I or II. Ovarian cancers in Lynch syndrome mostly have non-serous histology and different properties from those of sporadic ovarian cancers. A screening method for ovarian cancers in Lynch syndrome has yet to be established and clinical studies of prophylactic administration of oral contraceptives are not available. However, molecular profiles at the genetic level indicate that ovarian cancer in Lynch syndrome has a more favorable prognosis than sporadic ovarian cancer. Inhibitors of the phosphatidylinositol 3-kinase/mammalian target of the rapamycin pathway and anti-epidermal growth factor antibodies may have efficacy for the disease. To the best of our knowledge, this is the first review focusing on ovarian cancer in Lynch syndrome.

Impact of patellar height on unicompartment knee arthroplasty: does patella baja lead to an inferior outcome?

PubMed

Neogi, Devdatta Suhas; Bae, Ji Hoon; Seok, Chang Woo; Lim, Hong Chul

2014-03-01

Though a number of series with long-term results have been published, there is still a paucity of literature on the role of patellar height after unicompartment knee arthroplasty (UKA). The present study was conducted with a hypothesis that patella baja may lead to a poor outcome at follow-up. A retrospective review of 134 knees was performed and patellar height calculated before and after UKA by Blackburne-Peel index (BPI) and the Insall-Salvati ratio (ISR) on true lateral radiographs of the patients in 30° of flexion taken pre-operatively and at 1 year, 2 years and final follow-up (minimum 5 years). Statistical analysis was performed to evaluate the outcomes. There was a decrease in ISR in 14.18 % and in BPI in 19.4 % at final follow-up. There was a significant decrease in BPI values while the decrease was not significant for ISR. After eliminating the pre-operative patella baja, 7.3 % developed post-operative patella baja, according to ISR, while 11.5 % developed patella baja as per BPI. At final follow-up there was a statistically significant decrease in stair climbing scores in patients with patella baja when compared to patients with normal ISR. Patients with a decrease in patellar height as per ISR have a decrease in stair climbing score at mid-term follow-up while the overall KSS, and pain scores are not affected by a change in patellar height and neither is there a significant progress in patellofemoral osteoarthritis among patients with patella baja compared to normal patella.

Pseudo-Patella Baja after total knee arthroplasty

PubMed Central

Kazemi, Seyyed Morteza; Besheli, Laleh Daftari; Eajazi, Alireza; Sajadi, Mohammad Reza Miniator; Okhovatpoor, Mohammad Ali; Zanganeh, Ramin Farhang; Minaei, Reza

2011-01-01

Summary Background One of the complications of total knee arthroplasty (TKA) which has not yet been directly addressed is pseudo-patella baja (PPB). True patella baja (PB) is present when the length of the patellar tendon becomes shorter. PPB is present when the patella tendon is not shortened, but the level of the joint line is elevated. This study was conducted to assess PPB in TKA. Material/Methods Sixty patients who had had a primary TKA at our center between 1995 and 2005 were included. The average follow-up was 27.5 months. The Knee Society Scoring (KSS), lateral knee x-rays and the Blackburne-Peel index were used for assessments. Results Out of the 60 patients, 43 (72%) demonstrated no joint line elevation or patellar tendon shortening (group A). Fifteen patients (25%) had joint line elevation (group B), and both PB and PPB were present in 2 (3%) patients (group C). KSS was lower in groups B and C compared with group A, but this difference was not statistically significant. The average range of motion (ROM) in group A was significantly higher compared with either group B or C, and patients in groups B and C showed significantly more severe pain compared with group A (P<0.001). Conclusions PPB is not an uncommon finding after TKA and is associated with a statistically significant decrease in ROM and an increase in pain. Furthermore, KSS in the PPB group was less than in patients without PPB, although the difference was not statistically meaningful. PMID:21525812

Scabies of the nail unit.

PubMed

Oh, Susan; Vandergriff, Travis

2014-10-15

Scabies limited to the nail unit is quite unusual, but may persist after treatment of crusted scabies. We present a man with a history of crusted scabies that resolved with treatment, but later the patient reported a chronic problem with crumbly, thickened nails, which were found to be harboring scabies mites.

Aging changes in hair and nails

MedlinePlus

... page: //medlineplus.gov/ency/article/004005.htm Aging changes in hair and nails To use the sharing ... you age, your hair and nails begin to change. HAIR CHANGES AND THEIR EFFECTS Hair color change . ...

Clinical features and nail clippings in 52 children with psoriasis.

PubMed

Uber, Marjorie; Carvalho, Vânia O; Abagge, Kerstin T; Robl Imoto, Renata; Werner, Betina

2018-03-01

Nail clipping, the act of cutting the distal portion of a nail for microscopic analysis, can complement the diagnosis of skin diseases with nail involvement, such as psoriasis. This study aimed to describe histopathologic findings on 81 nails from 52 children and adolescents with skin psoriasis and to determine whether these changes correlated with the severity of skin and nail involvement. Children with psoriasis were enrolled in this cross-sectional study to obtain Psoriasis Area and Severity Index (PASI) and Nail Psoriasis Severity Index (NAPSI) scores. The most altered nails were processed using periodic acid-Schiff with diastase staining. Fifty-two patients with a median age of 10.5 years were included. The median Nail Psoriasis Severity Index score of the 20 nails from these patients was 17 (range 3-80). The most common findings were pitting (94.2%), leukonychia (73.0%), and longitudinal ridges (63.5%). Eighty-one nail fragments were collected by clipping. Neutrophils were found in 6 samples (7.6%) and serous lakes in 15 (19%). Median nail plate thickness was 0.3 mm (range 0.1-0.63 mm). Patients whose nails had neutrophils had a higher median PASI score (6.1 vs 2.0, P = .03). Patients whose nails had serous lakes had higher median PASI (5.3 vs 1.9, P = .008) and NAPSI (median 45.0 vs 18.0, P = .006) scores. There seems to be a correlation between some microscopic nail features in children with psoriasis and their PASI and NAPSI scores, so nail clippings from children with suspected psoriasis may help with diagnosis, especially in the presence of neutrophils, and in excluding onychomycosis. © 2018 Wiley Periodicals, Inc.

Horizontal versus vertical orientation of the loop for tension band wiring of transverse patella fractures.

PubMed

Lee, Sang Ki; Hwang, Yoon Sub; Choy, Won Sik

2014-03-01

Conventional operative treatments of patella fractures are frequently associated with implant failure or displacement. Recent biomechanical studies showed that the orientation of the wire loop and the site of the wire twist can affect the fixation strength. The purpose of this study was to compare the clinical outcome of the tension band technique with loops in different orientations and different knot positions. For this retrospective study, 72 patella fractures (71 patients) were fixed with figure-of-eight configurations in combination with 2 K-wires. Patients were divided into 3 groups according to the orientation of tension band construct. A total of 40 patella fractures were placed with figure-of-eight configurations in a vertical orientation either with 1 wire twist (group 1; 16 patella fractures) or with 2 wire twists at the adjacent corners (group 2; 24 patella fractures). Thirty-two patella fractures were placed with figure-of-eight configurations in a horizontal orientation with 2 wire twists at the adjacent corners (group 3). Range of motion, complication rates, and knee scoring scales (Hospital for Special Surgery and Lysholm) were assessed during serial follow-up. Satisfactory reductions were achieved in all groups, but functional results in the early stage were different. Group 3 had better Hospital for Special Surgery and Lysholm scores at 3 months postoperatively; however, at 6 months and 1 year postoperatively, all groups had similar scores. At the 1-year follow-up, all groups achieved acceptable flexion and range of motion. The overall complication rate was lower in the horizontal group (12.5%). Placing the figure-of-eight tension band construct in a horizontal orientation can provide functional benefits in the early stage after patella fractures. Copyright 2014, SLACK Incorporated.

Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

PubMed Central

2009-01-01

Background Breast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed to reduce risk, has become increasingly relevant. A previous study in Southern Brazil has shown that a family history suggestive of these syndromes may be prevalent at the primary care level. Development of a simple and sensitive instrument, easily applicable in primary care units, would be particularly helpful in underserved communities in which identification and referral of high-risk individuals is difficult. Methods A simple 7-question instrument about family history of breast, ovarian and colorectal cancer, FHS-7, was developed to screen for individuals with an increased risk for hereditary breast cancer syndromes. FHS-7 was applied to 9218 women during routine visits to primary care units in Southern Brazil. Two consecutive samples of 885 women and 910 women who answered positively to at least one question and negatively to all questions were included, respectively. The sensitivity, specificity and positive and negative predictive values were determined. Results Of the 885 women reporting a positive family history, 211 (23.8%; CI95%: 21.5–26.2) had a pedigree suggestive of a hereditary breast and/or breast and colorectal cancer syndrome. Using as cut point one positive answer, the sensitivity and specificity of the instrument were 87.6% and 56.4%, respectively. Concordance between answers in two different applications was given by a intra-class correlation (ICC) of 0.84 for at least one positive answer. Temporal stability of the instrument was adequate (ICC = 0.65). Conclusion A simple instrument for the identification of the most common hereditary breast cancer syndrome phenotypes, showing good specificity and temporal stability was developed and could be used as a screening tool in primary care to refer at-risk individuals for genetic

MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques.

PubMed

Brammer, David W; Gillespie, Patrick J; Tian, Mei; Young, Daniel; Raveendran, Muthuswamy; Williams, Lawrence E; Gagea, Mihai; Benavides, Fernando J; Perez, Carlos J; Broaddus, Russell R; Bernacky, Bruce J; Barnhart, Kirstin F; Alauddin, Mian M; Bhutani, Manoop S; Gibbs, Richard A; Sidman, Richard L; Pasqualini, Renata; Arap, Wadih; Rogers, Jeffrey; Abee, Christian R; Gelovani, Juri G

2018-03-13

Over the past two decades, 33 cases of colonic adenocarcinomas have been diagnosed in rhesus macaques ( Macaca mulatta ) at the nonhuman primate colony of the Keeling Center for Comparative Medicine and Research at The University of Texas MD Anderson Cancer Center. The distinctive feature in these cases, based on PET/computed tomography (CT) imaging, was the presence of two or three tumor lesions in different locations, including proximal to the ileocecal juncture, proximal to the hepatic flexure, and/or in the sigmoid colon. These colon carcinoma lesions selectively accumulated [ 18 F]fluorodeoxyglucose ([ 18 F]FDG) and [ 18 F]fluoroacetate ([ 18 F]FACE) at high levels, reflecting elevated carbohydrate and fatty acid metabolism in these tumors. In contrast, the accumulation of [ 18 F]fluorothymidine ([ 18 F]FLT) was less significant, reflecting slow proliferative activity in these tumors. The diagnoses of colon carcinomas were confirmed by endoscopy. The expression of MLH1, MSH2, and MSH6 proteins and the degree of microsatellite instability (MSI) was assessed in colon carcinomas. The loss of MLH1 protein expression was observed in all tumors and was associated with a deletion mutation in the MLH1 promoter region and/or multiple single-nucleotide polymorphism (SNP) mutations in the MLH1 gene. All tumors exhibited various degrees of MSI. The pedigree analysis of this rhesus macaque population revealed several clusters of affected animals related to each other over several generations, suggesting an autosomal dominant transmission of susceptibility for colon cancer. The newly discovered hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques, termed MLH1 -rheMac, may serve as a model for development of novel approaches to diagnosis and therapy of Lynch syndrome in humans. Copyright © 2018 the Author(s). Published by PNAS.

Quantitative analysis of the patella following the harvest of a quadriceps tendon autograft with a bone block.

PubMed

Ferrer, Gerald A; Miller, R Matthew; Murawski, Christopher D; Tashman, Scott; Irrgang, James J; Musahl, Volker; Fu, Freddie H; Debski, Richard E

2016-09-01

The objective of this study was to determine parameters associated with patellar fracture after quadriceps tendon autograft harvest. Thirteen non-fractured and five fractured patella surface models were created based on patient data obtained from a prospective randomized clinical trial in order to assess geometric parameters and bending stress. Measurements that describe the bone block harvest site geometry were used to calculate three normalized parameters. The relative depth parameter describes the thickness of the bone block harvest site with respect to the thickness of the patella at the harvest site. The asymmetry parameter defines the medial-lateral location of the bone bock harvest site. The normalized bending stress parameter assesses the bending stress experienced by the remaining bone beneath the bone block harvest site. The relative depth of the bone block harvest site in the non-fractured patellae was 27 ± 12 % and for the fractured patellae was 42 ± 14 % (p < 0.05). With a value <1 indicating a more lateral location of the harvest site, asymmetry for the non-fractured group was 1.0 ± 0.5 and 0.7 ± 0.4 for the fractured group (n.s.). The maximum bending stress experienced by the non-fractured patellae was (1.8 × 10(-3) ± 1.3 × 10(-3)) mm(-3) × M and for the fractured patellae was over three times greater (6.3 × 10(-3) ± 3.7 × 10(-3)) mm(-3) × M (p < 0.05). Based on the non-uniform geometry of the patella, an emphasis should be made on harvesting a standard percentage of patella thickness rather than a fixed depth. In order to minimize the incidence of a patellar fracture, bone blocks should not be taken laterally and should not exceed 30 % of the total patella thickness at the harvest site.

Nail Psoriasis: A Review of Treatment Options.

PubMed

Pasch, Marcel C

2016-04-01

Nail involvement affects 80-90 % of patients with plaque psoriasis, and is even more prevalent in patients with psoriatic arthritis. This review is the result of a systemic approach to the literature and covers topical, intralesional, conventional systemic, and biologic systemic treatments, as well as non-pharmacological treatment options for nail psoriasis. The available evidence suggests that all anti-tumor necrosis factor-α, anti-interleukin (IL)-17, and anti-IL-12/23 antibodies which are available for plaque psoriasis and psoriatic arthritis are highly effective treatments for nail psoriasis. Conventional systemic treatments, including methotrexate, cyclosporine, acitretin, and apremilast, as well as intralesional corticosteroids, can also be effective treatments for nail psoriasis. Topical treatments, including corticosteroids, calcipotriol, tacrolimus, and tazarotene, have also been shown to have a position in the treatment of nail psoriasis, particularly in mild cases. Finally, non-pharmacological treatment options, including phototherapy, photodynamic therapy, laser therapy, and several radiotherapeutic options, are also reviewed but cannot be advised as first-line treatment options. Another conclusion of this review is that the lack of a reliable core set of outcomes measures for trials in nail psoriasis hinders the interpretation of results, and is urgently needed.

A Case Report of Sleeve Fracture of the Patella in a Shield.

PubMed

Tsubosaka, Masanori; Makino, Takeshi; Kishimoto, Shin-Ichiro; Yamaura, Kohei

2016-01-01

Sleeve fractures of the patella are rare fractures that only occur in children. The diagnosis is difficult both clinically and radiologically since the distal bony fragment may be too small to be detectable by radiography. A high-riding patella and hemarthrosis are important signs of sleeve fractures. A 12-year-old boy was admitted to the emergency room after having felt a severe pain in his left knee on kicking the ground while skateboarding earlier that day. Knee swelling, tense hemarthrosis, and periarticular tenderness were noted. On physical examination, an extension lag of 15 was observed. The active range of motion of the injured knee was 45-90° of flexion. Radiography showed an avulsion fracture of the lower pole of the patella and a high-riding patella. At the next day after the injury, we performed open reduction and internal fixation surgery. Open reduction with transosseous tunneling and cerclage wiring was performed because the distal bony fragment was too small for tension band wiring to be used. At 9 months after surgery, there was no extension lag, and the active range of motion of the injured knee was 0-140° of flexion. Callus formation over the fracture site and bone union was confirmed, and the cerclage wire was removed. To date, he had no further symptoms and has been able to carry out all types of physical activities, including skateboarding. Although sleeve fractures in children are uncommon, it should be considered a possibility in children with a chief complaint of pain around the knee. Open reduction and internal fixation was effective in the treatment of sleeve fracture of the patella.

Chondromalacia patellae treated by warming needle and rehabilitation training.

PubMed

Qiu, Ling; Zhang, Min; Zhang, Ji; Gao, Le-Nv; Chen, Da-wei; Liu, Jun; She, Jia-yi; Wang, Ling; Yu, Jin-yan; Huang, Le-ping; Bai, Yang

2009-06-01

To observe the effect of warming needle combined with rehabilitation training on chondromalacia patellae in a randomized controlled trial. The 92 cases were randomly divided into a treatment group treated by warming needle plus rehabilitation training (47 cases) and a control group treated by medication plus rehabilitation training (45 cases), and the therapeutic effect was compared after 20 sessions. The pain was relieved more obviously in the treatment group than in the control group (P < 0.05), and the total effective rate was 91.8% and 71.1% respectively (P < 0.01). Warming needle plus rehabilitation training was superior in the therapeutic effect and duration of producing relief of pain to medication plus rehabilitation training in treating chondromalacia patellae.

Associations between measures of adiposity over 10 years and patella cartilage in population-based asymptomatic women.

PubMed

Gunardi, A J; Brennan, S L; Wang, Y; Cicuttini, F M; Pasco, J A; Kotowicz, M A; Nicholson, G C; Wluka, A E

2013-12-01

Osteoarthritis (OA) most commonly affects the patellofemoral compartment of the knee, and is a major cause of pain and disability. Structural changes that evolve prior to the onset of symptoms can be visualised using magnetic resonance imaging (MRI). There is little known information about the role of adiposity on the early structural changes in the patella cartilage in younger, asymptomatic adult females. One hundred and sixty asymptomatic women (20-49 years) participating in the Geelong Osteoporosis Study underwent knee MRI (2006-8). Weight and body mass index (BMI) were measured 10 years prior (1994-7, baseline) and at the time of MRI (current), with change over the period calculated (current-baseline). Relationships between measures of adiposity and patella cartilage volume and defects were examined. After adjustment for age and patella bone volume, there was a reduction of 13 ml (95% confidence interval (95% CI), -25.7, -0.55) in patella cartilage volume for every 1 unit increase in current BMI, and a reduction of 27 ml (95% CI -52.6, -1.5) per BMI unit increase over 10 years (P=0.04 for both). No significant association was observed between baseline BMI and patella cartilage volume (P=0.16). Increased baseline and current weight and BMI were associated with increased prevalence of patella cartilage defects (all P<0.001). Adiposity and weight gain during midlife are associated with detrimental structural change at the patella in young to middle-aged healthy non-osteoarthritic women. Maintaining a healthy weight and avoiding weight gain in younger asymptomatic women may be important in the prevention of patellofemoral OA.

78 FR 78382 - Steel Nails From China; Determination

Federal Register 2010, 2011, 2012, 2013, 2014

2013-12-26

... INTERNATIONAL TRADE COMMISSION [Investigation No. 731-TA-1114 (Review)] Steel Nails From China... U.S.C. 1675(c)), that revocation of the antidumping duty order on steel nails from China would be... 2013), entitled Steel Nails from China: Investigation No. 731-TA-1114 (Review). By order of the...

Guidance on maintaining personal hygiene in nail care.

PubMed

Malkin, Bridget; Berridge, Pat

Nail care is important in the maintenance of personal hygiene and is an essential aspect of patient care. Confusion about who should perform nail care for patients has resulted in poor practice and cycles of non-activity. This article provides guidance for nurses on performing routine nail care.

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

PubMed

Frouin, Eric; Laugel, Vincent; Durand, Myriam; Dollfus, Hélène; Lipsker, Dan

2013-12-01

Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases. A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to 28 years. Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations. Fourteen patients were classified clinically as having CS and 2 as having COFS syndrome. Photosensitivity was present in 75% of the patients and was characterized by sunburn after brief sun exposure. Six patients developed symptoms after short sun exposure through a windshield. Six patients had pigmented macules on sun-exposed skin, but none developed a skin neoplasm. Twelve patients (75%) displayed cyanotic acral edema of the extremities. Eight patients had nail dystrophies and 7 had hair anomalies. The dermatologic findings of 16 cases of CS and COFS syndrome highlight the high prevalence of photosensitivity and hair and nail disorders. Cyanotic acral edema was present in 75% of our patients, a finding not previously reported in CS.

Nail Hygiene

MedlinePlus

... diligently cleaning and trimming fingernails, which may harbor dirt and germs and can contribute to the spread ... of their length, longer fingernails can harbor more dirt and bacteria than short nails, thus potentially contributing ...

Treatment of Nail Psoriasis: Common Concepts and New Trends

PubMed Central

Oram, Yasemin; Akkaya, A. Deniz

2013-01-01

The lifetime incidence of nail involvement in psoriatic patients is estimated to be 80–90%, and the nails can be affected in 10% to 55% of psoriatic patients. Psoriasis may also solely involve the nails, without any other skin findings, in which the treatment can be more challenging. Nail psoriasis may lead to considerable impairment in quality of life due to aesthetic concerns and more importantly limitations in daily activities resulting from the associated pain, which may be overlooked by the physicians. Several topical and systemic treatment modalities, as well as radiation and light systems, have been used in the treatment of nail psoriasis. In the last decade, the introduction of biologic agents and the utilization of laser systems have brought a new insight into the treatment of nail psoriasis. This paper focuses on the recent advances, as well as the conventional methods, in treating nail psoriasis in adults and children, in reference to an extensive literature search. PMID:23762032

Sarcoidosis: nail dystrophy without underlying bone changes.

PubMed

Wakelin, S H; James, M P

1995-06-01

Sarcoidosis is a chronic granulomatous disease of unknown origin that affects multiple organs and may present with a variety of skin lesions. Involvement of the nails is rare and almost invariably associated with underlying bone disease. We describe a patient with sarcoid nail dystrophy in whom this diagnosis was confirmed by a proximal nail fold biopsy. Radiologic investigation did not show evidence of an associated bone dystrophy in this case.

Return to activity among athletes with a symptomatic bipartite patella: a systematic review.

PubMed

Matic, George T; Flanigan, David C

2015-09-01

A bipartite patella is typically rare, but can become symptomatic during overuse activities such as those performed during athletic events. Therefore, this anomaly typically presents in the young, athletic population, often inhibiting athletic activities. Multiple treatment options exist, with nonsurgical management frequently adopted as the initial treatment of choice. To determine the most effective intervention in returning athletes with symptomatic bipartite patella to their prior activity levels. A systematic review of the literature was performed using PRISMA guidelines to identify studies reporting outcomes of athletes' ability to return to activity following treatment for a symptomatic bipartite patella. The type of intervention, type of bipartite classification, outcomes, and complications were recorded. Twenty articles with a total of 125 patients and 130 knees were identified and included in this review. A total of 105 athletes made a full return to athletic activity following treatment for their painful bipartite patella. One hundred athletes (85.5%) that underwent surgical treatment were able to make a full return to their sport without symptoms, although this varied by surgical procedure performed. Excision of the painful fragment produced the best results in returning athletes to sport, with 91% returning without symptoms and nine percent returning but with residual symptoms. Surgical treatments for symptomatic bipartite patellae are successful at returning athletes to their same level of play, and best outcomes are with excision of the fragment. These results are limited, however, due to the poor quality of original data given the rarity of the anomaly and the underrepresented conservative treatment group. Copyright © 2015 Elsevier B.V. All rights reserved.

Taxane-induced nail changes: Predictors and efficacy of the use of frozen gloves and socks in the prevention of nail toxicity.

PubMed

Can, Gulbeyaz; Aydiner, Adnan; Cavdar, Ikbal

2012-07-01

The primary endpoint of this study was to determine predictors of taxane-related nail toxicity. The secondary endpoint was to evaluate the efficacy of the use of frozen gloves and socks in the prevention of taxane-related nail toxicity. This descriptive, interventional, cross-sectional study was conducted with 200 patients. The patients were assigned to the frozen gloves/socks intervention group or control group. Frozen gloves/socks were applied only in hourly taxane-based treatments. The Patients Record Forms of the clinic were used in data collection. Nail changes were graded using the NCI Common Toxicity Criteria for each patient and treatment. Logistic regression analysis was performed to predict the factors that affect nail changes. The majority of the patients enrolled in the study were women diagnosed with breast cancer. The two groups were statistically similar for the cancer diagnosis, type and number of taxane cycles administered. Grade 1 nail toxicity was found in 34%, grade 2 in 11%, and grade 3 in 5.5% patients. Taxane-related nail toxicity was higher in patients who were female, had a history of diabetes, received capecitabine in conjunction with docetaxel and had breast or gynecological cancer diagnosis. Nail changes increased with an increase in the number of taxane cycles administered, BMI and severity of treatment-related neuropathy. The multivariate analysis demonstrated that BMI, breast or ovarian cancer diagnosis and the number of taxane cycles administered were the independent factors for this toxicity. No statistically significant difference in nail toxicity incidence and time to occurrence of nail changes was found between the intervention and the control groups. Copyright © 2011 Elsevier Ltd. All rights reserved.

Nail Scabies: An Unusual Presentation Often Overlooked and Mistreated.

PubMed

Tempark, Therdpong; Lekwuttikarn, Ramrada; Chatproedprai, Susheera; Wananukul, Siriwan

2017-04-01

Nail scabies is an interesting clinical presentation of scabies. Although it is usually found concomitant with characteristic dermatologic manifestations, it may present as an isolated finding in the immunocompromised host. This condition is commonly mistaken with other diseases such as nail dystrophy, nail psoriasis and onychomycosis. We report two cases of unusual nail presentations that provide clues to diagnosis. Also, literature on unusual nail and dermatologic presentations was reviewed to recognize dermatologist consideration for appropriate treatment options. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Close association between metal allergy and nail lichen planus: detection of causative metals in nail lesions.

PubMed

Nishizawa, A; Satoh, T; Yokozeki, H

2013-02-01

Lichen planus (LP) is a common skin disorder of unknown aetiology that affects the skin, mucous membranes and nails. Although metal allergies have been implicated in the development of oral LP (OLP), the contribution of these allergies to nail LP (NLP) has yet to be studied in detail. To elucidate the link between metal allergy and NLP. We retrospectively analysed 115 LP patients with respect to the contribution of metals to either NLP or OLP. We also attempted to detect the specific metals involved in these nail lesions. Of the 79 patients that received a metal patch test (PT), 24 (30%) were positive for at least one of the metal compounds tested. Notably, the prevalence of positive reactions to metals in the NLP patients was significantly higher as compared with the OLP patients (59% vs. 27%, P < 0.05). Among the 10 PT-positive patients with NLP, improvement of the skin lesions was seen in six of the patients after removal of dental materials containing causative metals or systemic disodium cromoglycate therapy. On the other hand, only 3 of 16 PT-positive patients with OLP exhibited improvement after the removal of dental materials. Causative metals in the dental fillings/braces were detected in the involved nail tissues. This study suggests that metal allergies are more closely associated with NLP vs. OLP, and that deposited metals in the nail apparatus contribute to the development of lichenoid tissue reactions in the nail bed and matrix. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

Outcome of low profile mesh plate in management of comminuted displaced fracture patella.

PubMed

Singer, Mohamed S; Halawa, Abdelsamie M; Adawy, Adel

2017-06-01

To assess the clinical results of using mesh plate in management of displaced comminuted fracture patella. Between January 2014 and October 2015, nine patients with closed displaced comminuted fracture patella were fixed using mesh plate and 2mm mini screws. All fractures united after an average of 10 weeks. At final follow-up of an average 19.6 months, average postoperative Lysholm score was 89.1±4.9, and average Postoperative Böstman scale was 27.2±3.1. No hardware related complications were recorded. Low profile mesh plate is a good option in management of comminuted fracture patella with good clinical outcome. This new surgical technique may be particularly useful in comminuted fractures when patellectomy would otherwise be considered. Copyright © 2017 Elsevier Ltd. All rights reserved.

Gorlin syndrome and bilateral ovarian fibroma

PubMed Central

Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

2012-01-01

INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

[Hereditary hypophosphatemia in adults].

PubMed

Vélayoudom-Céphise, F-L; Vantyghem, M-C; Wémeau, J-L

2005-12-17

Hereditary hypophosphatemic rickets groups together X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets (ADHR) and hereditary hypophosphatemic rickets with hypercalciuria (HHRH, autosomal recessive). Clinical and biological characteristics and treatment depend on specific etiology. Mutations causing hereditary hypophosphatemic rickets involve PHEX located on Xp11.22 for XLH and FGF-23 located on 12p13 for ADHR. The gene involved in HHRH remains unknown: candidates may encode proteins that modulate phosphate transporter expression or activity. Others forms of rickets must be ruled out: acquired hypophosphatemia due to oncogenic osteomalacia, X-linked recessive hypophosphatemic rickets or Dent's disease, and hereditary 1, 25-dihydroxyvitamin D-resistant rickets with a defect either in the 1-alpha-hydroxylase gene (pseudo-vitamin D deficiency rickets, PDDR) or in the vitamin D receptor (hereditary vitamin D-resistant rickets, HVDRR).

A fatal nail gun injury--an unusual ricochet?

PubMed

Nadesan, K

2000-01-01

An 18-year-old construction worker suddenly collapsed while handling a power-actuated nail gun and died shortly after. A neat, almost circular puncture wound was found on the front of his left chest. No fire-arm residues were detected on the surrounding skin. The police stated that it was an accidental injury, at a construction site, where a nail fired from a nail gun by the deceased had deflected off the wall and struck him on the front of the chest. Since the entry wound appeared to be a neat hole, and that too on the front of the left chest overlying the heart area, there was reluctance on the part of the pathologist to accept it as an accidental injury due to a ricochet. A visit to the scene, interrogation of witnesses, examination of the alleged tool and post-mortem X-ray of the deceased were undertaken prior to autopsy. A bent nail was found in the heart. The scene visit and the subsequent autopsy revealed that the nail took a roughly circular flightpath after it had struck the wall, all the while travelling with its pointed end directed forward. Within the body too, the nail maintained the same path. Various medicolegal issues are discussed pertaining to nail-gun injuries. The importance of a visit to the scene, examination of the alleged tool, interrogation of witnesses and the X-ray of the body, all prior to autopsy, are emphasized. The conclusion was: accidental death due to the unusual ricochet of a nail.

Dynamic osteosynthesis by modified Kuntscher nail for the treatment of tibial diaphyseal fractures.

PubMed

Gadegone, Wasudeo M; Salphale, Yogesh S

2009-04-01

We evaluated a series of diaphyseal fractures of the tibia using low-cost, Indian-made modified Kuntscher nail (Daga nail) with the provision of distal locking screw for the management of the tibial diaphyseal fractures. One hundred and fifty one consecutive patients with diaphyseal fractures of tibia with 151 fractures who were treated by Daga nail were enrolled. One of the patients who had died because of cancer, and the two patients who were lost to follow-up at 3 months were excluded from the study.Therefore data of 148 patients with one hundred and fortyeight fractures is described. One hundred twenty closed fractures, 20 open Grade I fractures, and eight open Grade II fractures as per Gustilo and Anderson classification were included in this study. One hundred fourteen men and 34 women, with a mean age of 38.4 years, were studied. The result were analysed for Surgical time, duration of hospitalisation, union time, union rate, complication rate, functional recovery and crutch walking time. The fractures were followed at least until the time of solid union. The follow-up period averaged 15 months (range, 6-26 months). Union occurred in 140 cases (94.6%). The mean time to union was 13 weeks for closed fractures,17.8 weeks for Grade I open fractures, and 21.6 weeks for Grade II open fractures. Compartment syndrome occurred in two patients. Superficial infection occurred in five cases of Grade I and II compound fractures. Three closed fractures and one case of Grade I compound fracture required bone grafting for delayed union. Two cases of Grade II compound fracture with nonunion required revision surgery and bone grafting. Twelve cases resulted in acceptable malalignment due to operative technical error. In four cases, the distal screw breakage was seen, but none of these complications interfered with fracture healing. Recovery of joint motion was essentially normal in those patients without knee or ankle injury. Unreamed distally locked dynamic tibial nailing

Interventions for treating fractures of the patella in adults.

PubMed

Sayum Filho, Jorge; Lenza, Mário; Teixeira de Carvalho, Rogerio; Pires, Osvaldo G N; Cohen, Moisés; Belloti, João Carlos

2015-02-27

Fractures of the patella (kneecap) account for around 1% of all human fractures. The treatment of these fractures can be surgical or conservative (such as immobilisation with a cast or brace). There are many different surgical and conservative interventions for treating fractures of the patella in adults. To assess the effects (benefits and harms) of interventions (surgical and conservative) for treating fractures of the patella in adults. We searched the Cochrane Bone, Joint and Muscle Trauma Group Specialised Register (2 May 2014), the Cochrane Central Register of Controlled Trials (The Cochrane Library, 2014, Issue 4), MEDLINE (1946 to April Week 4 2014), Ovid MEDLINE In-Process & Other Non-Indexed Citations (2 May 2014), Embase (1980 to 2014 Week 17), LILACS (1982 to 2 May 2014), trial registers and references lists of articles. Randomised controlled trials (RCTs) or quasi-RCTs that evaluated any surgical or conservative intervention for treating adults with fractures of the patella were eligible for inclusion. The primary outcomes were patient-rated knee function and knee pain, and major adverse outcomes. At least two review authors independently selected eligible trials, assessed risk of bias and cross-checked data extraction. Where appropriate, results of comparable trials were pooled. We included five small trials involving 169 participants with patella fractures. Participant age ranged from 16 to 76 years. There were 68 females and 100 males; the gender of one participant was not reported. Two trials were conducted in China and one each in Finland, Mexico and Turkey.All five trials compared different surgical interventions. Two trials compared biodegradable versus metallic implants for treating displaced patella fractures; one trial compared patellectomy with advancement of vastus medialis obliquus versus simple patellectomy for treating comminuted patella fractures; and two trials compared percutaneous osteosynthesis (both procedures were 'novel' and one

Soil nailing of a bridge fill embankment : construction report.

DOT National Transportation Integrated Search

1991-08-01

Soil nailing as an alternative lateral earth support method has recently been introduced in Oregon to build the first permanent Soil-Nailed Wall on the State's Highway System. : The soil nailing technique was used for an underpass widening to provide...

Molecular biology of hereditary diabetes insipidus.

PubMed

Fujiwara, T Mary; Bichet, Daniel G

2005-10-01

The identification, characterization, and mutational analysis of three different genes-the arginine vasopressin gene (AVP), the arginine vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin 2 [AQP2])-provide the basis for understanding of three different hereditary forms of "pure" diabetes insipidus: Neurohypophyseal diabetes insipidus, X-linked nephrogenic diabetes insipidus (NDI), and non-X-linked NDI, respectively. It is clinically useful to distinguish two types of hereditary NDI: A "pure" type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients who have congenital NDI and bear mutations in the AVPR2 or AQP2 genes have a "pure" NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride, and calcium. Patients who bear inactivating mutations in genes (SLC12A1, KCNJ1, CLCNKB, CLCNKA and CLCNKB in combination, or BSND) that encode the membrane proteins of the thick ascending limb of the loop of Henle have a complex polyuro-polydipsic syndrome with loss of water, sodium, chloride, calcium, magnesium, and potassium. These advances provide diagnostic and clinical tools for physicians who care for these patients.

Prader-Willi Syndrome (PWS): Condition Information

MedlinePlus

... with this disorder. Some can work in sheltered environments. Scientists do not know what increases the risk for Prader-Willi syndrome. The genetic error that leads to Prader-Willi syndrome occurs randomly, usually very early in fetal development. The syndrome is usually not hereditary. 3 Cassidy, S. ...

High-resolution ultrasonography in assessment of nail-related disorders.

PubMed

Singh, R; Bryson, D; Singh, H P; Jeyapalan, K; Dias, J J

2012-09-01

Disorders of the nail can pose a diagnostic challenge, and non-invasive imaging is frequently required to clarify diagnosis and delineate anatomy pre-operatively. We explored the use of high-resolution ultrasonography in the assessment of patients with nail disorders attending orthopaedic hand clinics. A search of a university teaching hospital musculoskeletal radiology database identified 36 patients (mean age 54.2 years) where ultrasonography was used to assess nail-related disorders between April 2003 and January 2007. Clinical, surgical and histological findings were correlated in these cases with ultrasound reports. Ultrasound findings correlated with the provisional diagnosis in 20 (61%) of 33 patients and provided a diagnosis in 3 patients where a provisional diagnosis was unavailable. In 7 of the 13 cases where the clinical diagnosis differed from ultrasound findings, a lump originally diagnosed as cystic in origin was shown to be solid on ultrasound. Different nail pathologies showed different characteristics on ultrasonography, including differences in vascularity, echogenicity, changes in nail structure/shape and extension into the nail bed, matrix, fold or evidence of bony erosion. The ultrasound findings correlated with histological analysis and intra-operative assessment in 10 of 15 patients who underwent operative treatment. Ultrasound provides important information on the anatomy of the nail apparatus and can differentiate solid and cystic lesions. It can be used as a diagnostic tool and can therefore help in pre-operative planning of nail-related disorders. In our series ultrasound supported or improved upon the clinical diagnosis in 31 (86%) out of the 36 patients presenting with nail-related disorders.

Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G>A.

PubMed

Finsterer, Josef; Stollberger, Claudia; Gatterer, Edmund

2018-05-01

This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber's hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt. Since the age of 65 years, he had experienced recurrent vertigo. His cardiological history was positive for arterial hypertension, noncompaction, myocardial thickening, intermittent right bundle-branch-block (RBBB) and Wolff-Parkinson-White (WPW) syndrome. In addition to LHON, he presented with polyneuropathy, hyperCKaemia, carotid artery occlusion, and a history of stroke. Cardiological investigations at 66 years of age revealed mildly reduced systolic function, enlarged atria, and nonsustained ventricular tachycardias. He underwent an electrophysiological investigation, but radiofrequency ablation was ruled out due to a 'bizarre' cardiac conduction system. Instead, an implantable cardioverter defibrillator was proposed but refused by the patient. Since the vertigo did not resolve it was attributed to polyneuropathy. This case demonstrates that LHON may be associated with noncompaction, myocardial thickening, reduced systolic function, enlarged atria, RBBB, WPW syndrome and nonsustained ventricular tachycardias. WPW syndrome in LHON may require invasive antiarrhythmic treatment.

Separate vertical wiring for the fixation of comminuted fractures of the inferior pole of the patella.

PubMed

Song, Hyung Keun; Yoo, Je Hyun; Byun, Young Soo; Yang, Kyu Hyun

2014-05-01

Among patients over 50 years of age, separate vertical wiring alone may be insufficient for fixation of fractures of the inferior pole of the patella. Therefore, mechanical and clinical studies were performed in patients over the age of 50 to test the strength of augmentation of separate vertical wiring with cerclage wire (i.e., combined technique). Multiple osteotomies were performed to create four-part fractures in the inferior poles of eight pairs of cadaveric patellae. One patella from each pair was fixed with the separate wiring technique, while the other patella was fixed with a combined technique. The ultimate load to failure and stiffness of the fixation were subsequently measured. In a clinical study of 21 patients (average age of 64 years), comminuted fractures of the inferior pole of the patellae were treated using the combined technique. Operative parameters were recorded from which post-operative outcomes were evaluated. For cadaveric patellae, whose mean age was 69 years, the mean ultimate loads to failure for the separate vertical wiring technique and the combined technique were 216.4±72.4 N and 324.9±50.6 N, respectively (p=0.012). The mean stiffness for the separate vertical wiring technique and the combined technique was 241.1±68.5 N/mm and 340.8±45.3 N/mm, respectively (p=0.012). In the clinical study, the mean clinical score at final follow-up was 28.1 points. Augmentation of separate vertical wiring with cerclage wire provides enough strength for protected early exercise of the knee joint and uneventful healing.

The Relationship between Chondromalacia Patella, Medial Meniscal Tear and Medial Periarticular Bursitis in Patients with Osteoarthritis.

PubMed

Resorlu, Mustafa; Doner, Davut; Karatag, Ozan; Toprak, Canan Akgun

2017-12-01

This study investigated the presence of bursitis in the medial compartment of the knee (pes anserine, semimembranosus-tibial collateral ligament, and medial collateral ligament bursa) in osteoarthritis, chondromalacia patella and medial meniscal tears. Radiological findings of 100 patients undergoing magnetic resonance imaging with a preliminary diagnosis of knee pain were retrospectively evaluated by two radiologists. The first radiologist assessed all patients in terms of osteoarthritis, chondromalacia patella and medial meniscal tear. The second radiologist was blinded to these results and assessed the presence of bursitis in all patients. Mild osteoarthritis (grade I and II) was determined in 55 patients and severe osteoarthritis (grade III and IV) in 45 cases. At retropatellar cartilage evaluation, 25 patients were assessed as normal, while 29 patients were diagnosed with mild chondromalacia patella (grade I and II) and 46 with severe chondromalacia patella (grade III and IV). Medial meniscus tear was determined in 51 patients. Severe osteoarthritis and chondromalacia patella were positively correlated with meniscal tear (p < 0.001 and p = 0.018, respectively). Significant correlation was observed between medial meniscal tear and bursitis in the medial compartment (p = 0.038). Presence of medial periarticular bursitis was positively correlated with severity of osteoarthritis but exhibited no correlation with chondromalacia patella (p = 0.023 and p = 0.479, respectively). Evaluation of lateral compartment bursae revealed lateral collateral ligament bursitis in 2 patients and iliotibial bursitis in 5 patients. We observed a greater prevalence of bursitis in the medial compartment of the knee in patients with severe osteoarthritis and medial meniscus tear.

Tibiotalocalcaneal arthrodesis using a dynamically locked retrograde intramedullary nail.

PubMed

Pelton, Kevin; Hofer, Jason K; Thordarson, David B

2006-10-01

Tibiotalocalcaneal arthrodesis is an important salvage method for patients with complex hindfoot problems, including Charcot arthropathy, osteonecrosis of the talus, combined arthritis of the ankle and subtalar joint, and failed total ankle arthroplasty. This study evaluated the results of a dynamic retrograde intramedullary nail for fixation with posterior to anterior distal interlocking screws placed through the calcaneus for tibiotalocalcaneal fusion. Thirty-three consecutive tibiotalocalcaneal fusions were done by a single surgeon (DBT) and were stabilized with a dynamic retrograde intramedullary nail. Time to fusion, impaction of the nail relative to the intramedullary canal, nail-tibial angle, and complications were noted. Average followup was 14 months. Twenty-nine of 33 feet (88%) fused at an average of 3.7 months after surgery. Average impaction of the nail was 2.3 (0.5 to 5.0) mm. Cortical hypertrophy at the tip of the rod or at the proximal interlocking screw was noted in 13 of 27 patients. A trend toward a higher nonunion rate was noted in patients with an increased nail-tibial angle. Dynamic retrograde intramedullary nailing for fixation of the tibiotalocalcaneal fusions is a good method of stabilizing this complex fusion construct.

Gorlin syndrome and bilateral ovarian fibroma.

PubMed

Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

2012-01-01

Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. Gorlin-Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. Copyright © 2012 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

Removal of a broken trigen intertan intertrochanteric antegrade nail.

PubMed

Zheng, Xuan-Lin; Park, Young-Chang; Kim, Sungmin; An, Haemosu; Yang, Kyu-Hyun

2017-02-01

Implant breakage is a serious complication after cephalomedullary nailing for unstable intertrochanteric fracture. Failure usually occurs at the lag screw hole in the nail body. On the other hand, lag screw failure is extremely rare and occurs around the nail-lag screw junction. We experienced rare mechanical failure of the Intertan nail, which showed breakage at the lag screw hole and failure of the integrated compression screw underneath the main lag screw. Copyright © 2016 Elsevier Ltd. All rights reserved.

[Hereditary haemochromatosis].

PubMed

Bismuth, Michael; Aguilar-Martinez, Patricia; Michel, Henri

2003-11-08

EPIDEMIOLOGY ADN PHYSIOPATHOLOGY: Hereditary haemochromatosis is the most common genetic disease in France. Its frequency is on average 1 out of 300 French individuals. It is due to excessive dietary iron absorption, leading to accumulation of iron in the body. Mutations of the HFE1 gene are responsible for the majority of the case of haemochromatosis. FROM A CLINICAL POINT OF VIEW: The first clinical manifestations (weakness, sexual dysfunction, arthralgia, cardiac symptoms, dyspnoea on effort) can occur after the age of 30 years in men and 35 years in women (protected for longer by menstruation, pregnancy and delivery). In the absence of diagnosis, severe complications can develop during the 5th decade: nervous breakdown, arthropathy, heart failure, diabetes mellitus, cirrhosis with risk of progression towards carcinoma, responsible for handicaps and premature death. DIAGNOSTIC ELEMENTS: The diagnosis is evoked in the case of an increase in transferrine saturation (>45%), associated or not with excessive ferritin plasma levels. It is confirmed by the genetic test, showing homozygotes for the C282Y mutation or compound heterozygotes for the C282Y and H63D mutations on the HFE1 gene. RMI quantifies hepatic iron loading and generally avoids the need for a liver biopsy. The differential diagnosis must exclude secondary iron overload due to chronic transfusions in congenital or acquired blood diseases, a polymetabolic syndrome, chronic viral or alcoholic hepatic diseases and porphyria cutanea tarda. EFFICIENT TREATMENT: Today, haemochromatosis is still treated by phlebotomy. This consists in withdrawing 400 to 500ml of blood every week at the initial depletion stage and subsequently a maintenance therapy in order to maintain ferritin levels below 50 ng/ml. Paradoxically and through ignorance, hereditary haemochromatosis remains a serious disease, although its diagnosis is easy and the treatment simple and effective.

Importance of Patella, Quadriceps Forces, and Depthwise Cartilage Structure on Knee Joint Motion and Cartilage Response During Gait.

PubMed

Halonen, K S; Mononen, M E; Jurvelin, J S; Töyräs, J; Klodowski, A; Kulmala, J-P; Korhonen, R K

2016-07-01

In finite-element (FE) models of the knee joint, patella is often omitted. We investigated the importance of patella and quadriceps forces on the knee joint motion by creating an FE model of the subject's knee. In addition, depthwise strains and stresses in patellar cartilage with different tissue properties were determined. An FE model was created from subject's magnetic resonance images. Knee rotations, moments, and translational forces during gait were recorded in a motion laboratory and used as an input for the model. Three material models were implemented into the patellar cartilage: (1) homogeneous model, (2) inhomogeneous (arcadelike fibrils), and (3) random fibrils at the superficial zone, mimicking early stages of osteoarthritis (OA). Implementation of patella and quadriceps forces into the model substantially reduced the internal-external femoral rotations (versus without patella). The simulated rotations in the model with the patella matched the measured rotations at its best. In the inhomogeneous model, maximum principal stresses increased substantially in the middle zone of the cartilage. The early OA model showed increased compressive strains in the superficial and middle zones of the cartilage and decreased stresses and fibril strains especially in the middle zone. The results suggest that patella and quadriceps forces should be included in moment- and force-driven FE knee joint models. The results indicate that the middle zone has a major role in resisting shear forces in the patellar cartilage. Also, early degenerative changes in the collagen network substantially affect the cartilage depthwise response in the patella during walking.

Arthroscopic Excision of Bipartite Patella With Preservation of Lateral Retinaculum in an Adolescent Ice Hockey Player.

PubMed

James, Evan W; LaPrade, Christopher M; Chahla, Jorge; Cinque, Mark E; Kennedy, Nicholas I; LaPrade, Robert F

Bipartite patella usually is an asymptomatic anatomical variant. However, in some adolescent athletes, it causes anterior knee pain, resulting in decreased participation and performance. We report the case of a high-level adolescent ice hockey player who underwent successful arthroscopic excision with preservation of the lateral retinaculum of a symptomatic bipartite patella after failed nonoperative treatment. The patient returned to play by 6 weeks, and 31-month subjective follow-up scores showed high satisfaction and good clinical outcomes. For patients with a symptomatic bipartite patella, arthroscopic surgery is a good option for reducing pain and returning the athlete to competition.

Effect of aspirin treatment on chondromalacia patellae.

PubMed Central

Bentley, G; Leslie, I J; Fischer, D

1981-01-01

Twenty-nine patients (21 females and 8 males) with chondromalacia patellae diagnosed by arthroscopy were randomly allocated to receive aspirin or placebo for 3 months. Clinical and arthroscopic examination after 3 months showed no significant change in symptoms, signs, or macroscopic appearances in either group. Surgical treatment was performed in 14 patients for deteriorating symptoms. Images PMID:7008711

Hereditary spastic paraplegia: clinical principles and genetic advances.

PubMed

Fink, John K

2014-07-01

Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is either the only feature or is a major syndrome feature. There are more than 70 genetic types of HSP. Neuropathological studies, albeit limited to only a few genetic types of HSP, have identified axon degeneration involving the distal ends of the corticospinal tracts and fasciculus gracilis fibers. In this review, the author highlights the clinical and genetic features of HSP. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Clinical Evidence for the Relationship between Nail Configuration and Mechanical Forces

PubMed Central

Ogawa, Rei

2014-01-01

Summary: Mechanobiology is an emerging field of science that focuses on the way physical forces and changes in cell or tissue mechanics contribute to development, physiology, and disease. As nails are always exposed to physical stimulation, mechanical forces may have a particularly pronounced effect on nail configuration and could be involved in the development of nail deformities. However, the role of mechanobiology in nail configuration and deformities has rarely been assessed. This review describes what is currently understood regarding the effect of mechanical force on nail configuration and deformities. On the basis of these observations, we hypothesize that nails have an automatic curvature function that allows them to adapt to the daily upward mechanical forces. Under normal conditions, the upward daily mechanical force and the automatic curvature force are well balanced. However, an imbalance between these 2 forces may cause nail deformation. For example, pincer nails may be caused by the absence of upward mechanical forces or a genetic propensity increase in the automatic curvature force, whereas koilonychias may occur when the upward mechanical force exceeds the automatic curvature force, thereby causing the nail to curve outward. This hypothesis is a new concept that could aid the development of innovative methods to prevent and treat nail deformities. PMID:25289309

Anatomic aspects of tibiotalocalcaneal nail arthrodesis.

PubMed

Hyer, Christopher F; Cheney, Nick

2013-01-01

During the past 15 years, tibiotalocalcaneal nail arthrodesis has become an established procedure for the treatment of specific disorders of the hindfoot and ankle. However, controversy exists regarding the proper starting point for obtaining and maintaining the correct hindfoot position to allow successful fusion. One of the challenges with this procedure is aligning the tibial canal with the central talus and calcaneus for placement of the intramedullary nail. We performed a cadaver study to evaluate the radiographic and anatomic position of the tibial canal and the central talus as it relates to placement of a retrograde tibiotalocalcaneal nail. In our subjects, guide wires directed in an antegrade fashion down the tibial canal were more likely to enter lateral to the midline of the talus and miss the calcaneal body medially. These data have revealed a mismatch among the central axis of the tibia, talus, and calcaneus. Surgeons must pay careful attention to wire placement across these 3 bone segments during retrograde tibiotalocalcaneal nailing. Copyright © 2013 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Quiz: Nails

MedlinePlus

... you know about your nails? Find out by taking this quiz! About Us Contact Us Partners Editorial Policy Permissions Guidelines Privacy Policy & Terms of Use Notice of Nondiscrimination Visit the Nemours Web site. Note: All information on KidsHealth® is for educational purposes ...

Pseudoelastic intramedullary nailing for tibio-talo-calcaneal arthrodesis.

PubMed

Yakacki, Christopher M; Gall, Ken; Dirschl, Douglas R; Pacaccio, Douglas J

2011-03-01

Tibio-talo-calcaneal (TTC) arthrodesis is a procedure to treat severe ankle arthropathy by providing a pain-free and stable fusion. Intramedullary (IM) nails offer a method of internal fixation for TTC arthrodesis by providing compressive stability, as well as shear and torsional rigidity. IM nails have been developed to apply compression to the TTC complex during installation; however, current designs are highly susceptible to a loss of compression when exposed to small amounts of bone resorption and cyclic loading. Nickel titanium (NiTi) is a shape-memory alloy capable of recovering large amounts of deformation via shape-memory or pseudoelasticity. Currently, the next generation of IM nails is being developed to utilize the adaptive, pseudoelastic properties of NiTi and provide a fusion nail that is resistant to loss of compression or loosening. Specifically, the pseudoelastic IM nail contains an internal NiTi compression element that applies sustained compression during the course of fusion, analogous to external fixators. © 2011 Expert Reviews Ltd

Optimized cartilage visualization using 7-T sodium ((23)Na) imaging after patella dislocation.

PubMed

Widhalm, Harald K; Apprich, Sebastian; Welsch, Goetz H; Zbyn, Stefan; Sadoghi, Patrick; Vekszler, György; Hamböck, Martina; Weber, Michael; Hajdu, Stefan; Trattnig, Siegfried

2016-05-01

Retropatellar cartilage lesions often occur in the course of recurrent patella dislocation. Aim of this study was to develop a more detailed method for examining cartilage tissue, in order to reduce patient discomfort and time of care. For detailed diagnosing, a 7-T MRI of the knee joint and patella was performed in nine patients, with mean age of 26.4 years, after patella dislocation to measure the cartilage content in three different regions of interest of the patella. Axial sodium ((23)Na) images were derived from an optimized 3D GRE sequence on a 7-T MR scanner. Morphological cartilage grading was performed, and sodium signal-to-noise ratio (SNR) values were calculated. Mean global sodium values and SNR were compared between patients and volunteers. Two out of nine patients showed a maximum cartilage defect of International Cartilage Repair Society (ICRS) grade 3, three of grade 2, three of  grade 1, and one patient showed no cartilage defect. The mean SNR in sodium images for cartilage was 13.4 ± 2.5 in patients and 14.6 ± 3.7 in volunteers (n.s.). A significant negative correlation between age and global sodium SNR for cartilage was found in the medial facet (R = -0.512; R (2) = 0.26; p = 0.030). Mixed-model ANOVA yielded a marked decrease of the sodium SNR, with increasing grade of cartilage lesions (p < 0.001). Utilization of the (23)Na MR imaging will make earlier detection of alterations to the patella cartilage after dislocation possible and will help prevent subsequent disease due to start adequate therapy earlier in the rehabilitation process. II.

Eyelid Dermatitis Caused by Allergic Contact to Acrylates in Artificial Nails.

PubMed

Moreira, Jorge; Gonçalves, Rita; Coelho, Pedro; Maio, Tiago

2017-03-13

Over the past few years, there has been an increase in cases of allergic contact dermatitis caused by acrylates, because of the growing popularity of artificial nails. Pathological reactions to artificial nails typically occur on or around the nail area. Eyelid contact dermatitis due to artificial nails is rarely seen, especially in a nonoccupational setting. The authors report the case of a 45-year-old female accountant who developed eyelid dermatitis due to artificial nails.

Hereditary Melanoma: Update on Syndromes and Management - Genetics of familial atypical multiple mole melanoma syndrome

PubMed Central

Soura, E.; Eliades, P.; Shannon, K.; Stratigos, A.; Tsao, H.

2015-01-01

Malignant melanoma is considered the most lethal skin cancer if not detected and treated at its early stages. About 10% of melanoma patients report a family history of melanoma; however, individuals with features of true hereditary melanoma (i.e. unilateral lineage, multi-generational, multiple primary lesions, and early onset of disease) are in fact quite rare. Although many new loci have been implicated in hereditary melanoma, CDKN2A mutations remain the most common. Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation. Such patients have a high risk of developing multiple primary melanomas and internal organ malignancies especially pancreatic cancer; thus, a multidisciplinary approach is necessary in many cases. The value of dermoscopy examination and total body photography performed at regular intervals has been suggested by a number of studies, and should therefore be considered for these patients and their first degree relatives. In addition, genetic counseling with the possibility of testing can be a valuable adjunct for familial melanoma patients. But, this must be performed with care and only by qualified individuals trained in cancer risk analysis. PMID:26892650

Urinary tract cancer in patients with hereditary non-polyposis colorectal cancer.

PubMed

Zachhau, Peter; Walter, Steen

2012-02-01

Hereditary non-polyposis colorectal cancer (HNPCC), or Lynch syndrome, is characterized as a hereditary colorectal cancer with an increased risk of cancer elsewhere in the body. In the Department of Urology at Odense University Hospital, screening for cancer in the urinary tract has been carried out on 20 patients with HNPCC since November 2001. Clinical records and pathology results were reviewed for all patients during the screening period. During screening two patients without urological symptoms were found to have cancer in the ureter. HNPCC patients with increased risk of urinary tract cancer should be referred for screening of the urinary tract. It is also important to discuss a rational strategy towards the screening of HNPCC patients for urinary tract cancer, and to initiate further investigation into this screening.

The bovine patella as a model of early osteoarthritis.

PubMed

Hargrave-Thomas, E J; Thambyah, A; McGlashan, S R; Broom, N D

2013-12-01

The bovine patella model has been used extensively for studying important structure-function aspects of articular cartilage, including its degeneration. However, the degeneration seen in this model has, to our knowledge, never been adequately compared with human osteoarthritis (OA). In this study, bovine patellae displaying normal to severely degenerate states were compared with human tissue displaying intact cartilage to severe OA. Comparisons of normal and OA features were made with histological scoring, morphometric measurements, and qualitative observations. Differential interference contrast microscopy was used to image early OA changes in the articular cartilage matrix and to investigate whether this method provided comparable quality of visualisation of key structural features with standard histology. The intact bovine cartilage was found to be similar to healthy human cartilage and the degenerate bovine cartilage resembled the human OA tissues with regard to structural disruption, cellularity changes, and staining loss. The extent of degeneration in the bovine tissues matched the mild to moderate range of human OA tissues; however, no bovine samples exhibited late-stage OA. Additionally, in both bovine and human tissues, cartilage degeneration was accompanied by calcified cartilage thickening, tidemark duplication, and the advancement of the cement line by protrusions of bony spicules into the calcified cartilage. This comparison of degeneration in the bovine and human tissues suggests a common pathway for the progression of OA and thus the bovine patella is proposed to be an appropriate model for investigating the structural changes associated with early OA. © 2013 Anatomical Society.

The bovine patella as a model of early osteoarthritis

PubMed Central

Hargrave-Thomas, E J; Thambyah, A; McGlashan, S R; Broom, N D

2013-01-01

The bovine patella model has been used extensively for studying important structure–function aspects of articular cartilage, including its degeneration. However, the degeneration seen in this model has, to our knowledge, never been adequately compared with human osteoarthritis (OA). In this study, bovine patellae displaying normal to severely degenerate states were compared with human tissue displaying intact cartilage to severe OA. Comparisons of normal and OA features were made with histological scoring, morphometric measurements, and qualitative observations. Differential interference contrast microscopy was used to image early OA changes in the articular cartilage matrix and to investigate whether this method provided comparable quality of visualisation of key structural features with standard histology. The intact bovine cartilage was found to be similar to healthy human cartilage and the degenerate bovine cartilage resembled the human OA tissues with regard to structural disruption, cellularity changes, and staining loss. The extent of degeneration in the bovine tissues matched the mild to moderate range of human OA tissues; however, no bovine samples exhibited late-stage OA. Additionally, in both bovine and human tissues, cartilage degeneration was accompanied by calcified cartilage thickening, tidemark duplication, and the advancement of the cement line by protrusions of bony spicules into the calcified cartilage. This comparison of degeneration in the bovine and human tissues suggests a common pathway for the progression of OA and thus the bovine patella is proposed to be an appropriate model for investigating the structural changes associated with early OA. PMID:24111904

Position of the patella in adults in central India: evaluation of the Insall-Salvati ratio.

PubMed

Upadhyay, Sachin; Raza, H K T; Srivastava, Pranay

2013-04-01

To assess the Insall-Salvati ratio in normal Indian adults to determine its applicability and the incidence of patella alta and baja in Indian populations. 800 knees in 200 men and 200 women aged 18 to 50 (mean, 30) years were evaluated using lateral radiographs. The knee was set in semi-flexion (30º) to enable good visualisation of the patellar tendon and its insertion into the tibia on radiographs. The length of the patellar tendon (LT) over the length of the patella (LP)-the Insall-Salvati ratio-was measured, using a vernier caliper. The mean LT/LP ratio was 1.14 (standard deviation, 0.18). Based on the 95% confidence interval, the ratio was considered normal if within ±40%. The LT/LP ratio was significantly higher in females than males (1.17 vs. 1.12, p<0.01). The cut-off point of patella alta was significantly greater in our Indian subjects than in western subjects (>1.5 vs. >1.2, p<0.0001). In the present cohort, the frequencies of patella alta (ratio, >1.5) and patella baja (ratio, <0.7) were 2.8% and 1%, respectively. The use of the Insall-Salvati ratio to determine the patellar position is less applicable to Indian populations in which squatting, sitting cross-legged, and kneeling are customs. We propose that the normal range of the ratio for squatters among Indian populations be 0.7 to 1.5.

Separate Vertical Wiring for the Fixation of Comminuted Fractures of the Inferior Pole of the Patella

PubMed Central

Song, Hyung Keun; Yoo, Je Hyun; Byun, Young Soo

2014-01-01

Purpose Among patients over 50 years of age, separate vertical wiring alone may be insufficient for fixation of fractures of the inferior pole of the patella. Therefore, mechanical and clinical studies were performed in patients over the age of 50 to test the strength of augmentation of separate vertical wiring with cerclage wire (i.e., combined technique). Materials and Methods Multiple osteotomies were performed to create four-part fractures in the inferior poles of eight pairs of cadaveric patellae. One patella from each pair was fixed with the separate wiring technique, while the other patella was fixed with a combined technique. The ultimate load to failure and stiffness of the fixation were subsequently measured. In a clinical study of 21 patients (average age of 64 years), comminuted fractures of the inferior pole of the patellae were treated using the combined technique. Operative parameters were recorded from which post-operative outcomes were evaluated. Results For cadaveric patellae, whose mean age was 69 years, the mean ultimate loads to failure for the separate vertical wiring technique and the combined technique were 216.4±72.4 N and 324.9±50.6 N, respectively (p=0.012). The mean stiffness for the separate vertical wiring technique and the combined technique was 241.1±68.5 N/mm and 340.8±45.3 N/mm, respectively (p=0.012). In the clinical study, the mean clinical score at final follow-up was 28.1 points. Conclusion Augmentation of separate vertical wiring with cerclage wire provides enough strength for protected early exercise of the knee joint and uneventful healing. PMID:24719149

The Relationship between Chondromalacia Patella, Medial Meniscal Tear and Medial Periarticular Bursitis in Patients with Osteoarthritis

PubMed Central

Doner, Davut; Karatag, Ozan; Toprak, Canan Akgun

2017-01-01

Abstract Background This study investigated the presence of bursitis in the medial compartment of the knee (pes anserine, semimembranosus-tibial collateral ligament, and medial collateral ligament bursa) in osteoarthritis, chondromalacia patella and medial meniscal tears. Patients and methods Radiological findings of 100 patients undergoing magnetic resonance imaging with a preliminary diagnosis of knee pain were retrospectively evaluated by two radiologists. The first radiologist assessed all patients in terms of osteoarthritis, chondromalacia patella and medial meniscal tear. The second radiologist was blinded to these results and assessed the presence of bursitis in all patients. Results Mild osteoarthritis (grade I and II) was determined in 55 patients and severe osteoarthritis (grade III and IV) in 45 cases. At retropatellar cartilage evaluation, 25 patients were assessed as normal, while 29 patients were diagnosed with mild chondromalacia patella (grade I and II) and 46 with severe chondromalacia patella (grade III and IV). Medial meniscus tear was determined in 51 patients. Severe osteoarthritis and chondromalacia patella were positively correlated with meniscal tear (p < 0.001 and p = 0.018, respectively). Significant correlation was observed between medial meniscal tear and bursitis in the medial compartment (p = 0.038). Presence of medial periarticular bursitis was positively correlated with severity of osteoarthritis but exhibited no correlation with chondromalacia patella (p = 0.023 and p = 0.479, respectively). Evaluation of lateral compartment bursae revealed lateral collateral ligament bursitis in 2 patients and iliotibial bursitis in 5 patients. Conclusions We observed a greater prevalence of bursitis in the medial compartment of the knee in patients with severe osteoarthritis and medial meniscus tear. PMID:29333118

Augmentation plating in management of failed femoral nailing.

PubMed

Verma, Rahul; Sharma, Pulak; Gaur, Sanjiv

2017-08-01

Non-union following interlocking nailing is a troubling complication in treatment of shaft femur fractures. There is no clear consensus on the treatment of this problem. This research was undertaken to study the role of augmentation plating combined with exchange nailing in such cases. A prospective clinical study was undertaken from January 2010 to December 2015. Patients with aseptic femoral shaft non-union, with or without implant failure following intramedullary nailing were included in the study. Augmentation plating combined with Exchange Nailing with a 4.5mm LCP was done. Fifteen patients (nine male and six female) with an average age of 43.7 years (range 18-67 years) were treated. Average timing from the first surgery was 7.3 months. Complete clinical and radiological union was achieved in all cases in a mean duration of 5.2 months. Average duration of follow up was 12.6 months. All the patients retained the preoperative hip and knee range of motion till the last follow up. Augmentation plating combined with exchange nailing in non-unions following intramedullary nailing of femur shaft fractures is a reasonably good and effective procedure with a very high success rate. © 2017 Elsevier Ltd. All rights reserved.

Eyelid Dermatitis Caused by Allergic Contact to Acrylates in Artificial Nails

PubMed Central

Moreira, Jorge; Gonçalves, Rita; Coelho, Pedro; Maio, Tiago

2017-01-01

Over the past few years, there has been an increase in cases of allergic contact dermatitis caused by acrylates, because of the growing popularity of artificial nails. Pathological reactions to artificial nails typically occur on or around the nail area. Eyelid contact dermatitis due to artificial nails is rarely seen, especially in a nonoccupational setting. The authors report the case of a 45-year-old female accountant who developed eyelid dermatitis due to artificial nails. PMID:28603598

Suprapatellar Versus Infrapatellar Tibial Nail Insertion: A Prospective Randomized Control Pilot Study.

PubMed

Chan, Daniel S; Serrano-Riera, Rafael; Griffing, Rebecca; Steverson, Barbara; Infante, Anthony; Watson, David; Sagi, H Claude; Sanders, Roy W

2016-03-01

The purpose of this OTA-approved pilot study was to compare the clinical and functional outcomes of the knee joint after infrapatellar (IP) versus suprapatellar (SP) tibial nail insertion. Prospective, randomized. Level I trauma center. After institutional review board approval, skeletally mature patients with OTA 42 tibial shaft fractures were randomized into either an IP or SP nail insertion group after informed consent was obtained. The SP also underwent prenail and postnail insertion patella-femoral (PF) joint arthroscopy. Patients underwent follow-up (6 weeks, 3, 6, and 12 months) with standard radiographs, as well as visual analog score and pain diagram documentation. At the 6-month and 12-month visits, knee function questionnaires (Lysholm knee scale and SF-36) were completed. Magnetic resonance imaging/image (MRI) of the affected knee was obtained at 12 months. Ten patients in each group were required for a power analysis for the anticipated larger randomized control trial, but enrollment in each arm was not limited because of known problems with patient follow-up over a 12-month period. A total of 41 patients/fractures were enrolled in this study. Of those, only 25 patients/fractures (14 IP, 11 SP) fully complied with and completed 12 months of follow-up. Six of 11 SP presented with articular changes (chondromalacia) in the PF joint during the preinsertion arthroscopy. Three patients displayed a change in the articular cartilage based on postnail insertion arthroscopy. At 12 months, all fractures in both groups had proceeded to union. There were no differences between the affected and unaffected knee with respect to range of motion. Functional visual analog score and Lysholm knee scores showed no significant differences between groups (P > 0.05). The SF-36v2 comparison also revealed no significant differences in the overall score, all 4 mental components, and 3/4 physical components (P > 0.05). The bodily pain component score was superior in the SP group

Biomechanical evaluation of primary stiffness of tibiotalocalcaneal fusion with intramedullary nails.

PubMed

Mückley, Thomas; Eichorn, Stephan; Hoffmeier, Konrad; von Oldenburg, Geert; Speitling, Andreas; Hoffmann, Gunther O; Bühren, Volker

2007-02-01

Intramedullary implants are being used with increasing frequency for tibiotalocalcaneal fusion (TTCF). Clinically, the question arises whether intramedullary (IM) nails should have a compression mode to enhance biomechanical stiffness and fusion-site compression. This biomechanical study compared the primary stability of TTCF constructs using compressed and uncompressed retrograde IM nails and a screw technique in a bone model. For each technique, three composite bone models were used. The implants were a Biomet nail (static locking mode and compressed mode), a T2 femoral nail (compressed mode); a prototype IM nail 1 (PT1, compressed mode), a prototype IM nail 2 (PT2, dynamic locking mode and compressed mode), and a three-screw construct. The compressed contact surface of each construct was measured with pressure-sensitive film and expressed as percent of the available fusion-site area. Stiffness was tested in dorsiflexion and plantarflexion (D/P), varus and valgus (V/V), and internal rotation and external rotation (I/E) (20 load cycles per loading mode). Mean contact surfaces were 84.0 +/- 6.0% for the Biomet nail, 84.0 +/- 13.0% for the T2 nail, 70.0 +/- 7.2% for the PTI nail, and 83.5 +/- 5.5% for the compressed PT2 nail. The greatest primary stiffness in D/P was obtained with the compressed PT2, followed by the compressed Biomet nail. The dynamically locked PT2 produced the least primary stiffness. In V/V, PT1 had the (significantly) greatest primary stiffness, followed by the compressed PT2. The statically locked Biomet nail and the dynamically locked PT2 had the least primary stiffness in V/V. In I/E, the compressed PT2 had the greatest primary stiffness, followed by the PT1 and the T2 nails, which did not differ significantly from each other. The dynamically locked PT2 produced the least primary stiffness. The screw construct's contact surface and stiffness were intermediate. The IM nails with compression used for TTCF produced good contact surfaces and

Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of cultured fibroblasts from patients with dysplastic nevus syndrome and hereditary cutaneous malignant melanoma

DOE Office of Scientific and Technical Information (OSTI.GOV)

Smith, P.J.; Greene, M.H.; Adams, D.

The dysplastic nevus syndrome (DNS) is a preneoplastic melanocyte abnormality which occurs in families affected by hereditary cutaneous malignant melanoma (HCMM). A putative role of host-environmental interactions in the etiology of hereditary melanoma has been strengthened by the recent finding that fibroblasts derived from HCMM/DNS patients demonstrated enhanced sensitivity to u.v.-irradiation in vitro. An extension of these studies is reported in which we have examined the invitro responses to a model environmental carcinogen, 4-nitroquinoline 1-oxide (4NQO), of six non-tumor skin fibroblast strains from HCMM/DNS patients representing five families. Three of the six HCMM/DNS strains showed enhanced cell killing with sensitivitiesmore » greater than that of a xeroderma pigmentosum (XP) variant strain but less than those of ataxia telangiectasia and XP Group D cell strains. The inhibition and recovery of de novo DNA synthesis, together with the expression of repair synthesis, following 4NQO exposure appeared to be normal in HCMM/DNS strains, irrespective of their subsequent clonogenic potential. The data point to a metabolic anomaly which may contribute to the carcinogenic risk of the melanoma prone preneoplastic state presented by some DNS patients.« less

What is the chance that a patella dislocation will happen a second time: update on the natural history of a first time patella dislocation in the adolescent.

PubMed

Seitlinger, Gerd; Ladenhauf, Hannah N; Wierer, Guido

2018-02-01

Patellar instability occurs mainly in young patients and shows a high incidence of concomitant cartilage injuries. Recently there has been a strong attempt to identify risk factors and enhance imaging techniques to detect patients with an increased risk for recurrent patella dislocation.We describe current findings on factors associated with recurrent patella dislocation in the adolescent. Trochlear dysplasia, patellar height, patellar tilt, tibial tuberosity-trochlear groove distance, skeletal maturity, and history of contralateral patellar dislocation are well known significant risk factors for recurrence in adolescent patients. Predictive models to calculate risk of recurrence have been reported recently. The Patellar Instability Severity Score was the first to include demographic and anatomic factors, which is of major value when counseling patients and relatives. Several classification systems to predict the rate of recurrence after primary patella dislocation have been presented over the last years. Anatomic risk factors such as skeletal immaturity, trochlear morphology, patellar height, patellar tilt, and elevated tibial tuberosity-trochlear groove distance have been investigated. However, there is still a lack of knowledge as to how single risk factors or their interaction with each other may contribute.

Impact of a Healthy Nails Program on Nail-Biting in Turkish Schoolchildren: A Controlled Pretest-Posttest Study

ERIC Educational Resources Information Center

Ergun, Ayse; Toprak, Rumeysa; Sisman, Fatma Nevin

2013-01-01

This study was conducted to examine the effect of a healthy nails program on nail-biting in Turkish schoolchildren. This quasi-experimental study was of pretest-posttest control group design. A total of 50 students of a primary school formed the intervention group, while 53 students from the same school formed the control group. Data were…

Positive Effects of Voluntary Running on Metabolic Syndrome-Related Disorders in Non-Obese Hereditary Hypertriacylglycerolemic Rats

PubMed Central

Škop, Vojtěch; Malínská, Hana; Trnovská, Jaroslava; Hüttl, Martina; Cahová, Monika; Blachnio-Zabielska, Agnieszka; Baranowski, Marcin; Burian, Martin; Oliyarnyk, Olena; Kazdová, Ludmila

2015-01-01

While metabolic syndrome is often associated with obesity, 25% of humans suffering from it are not obese and the effect of physical activity remains unclear in such cases. Therefore, we used hereditary hypertriaclyglycerolemic (HHTg) rats as a unique model for studying the effect of spontaneous physical activity [voluntary running (VR)] on metabolic syndrome-related disorders, such as dyslipidemia, in non-obese subjects. Adult HHTg males were fed standard (CD) or high-sucrose (HSD) diets ad libitum for four weeks. Within both dietary groups, some of the rats had free access to a running wheel (CD+VR, HSD+VR), whereas the controls (CD, HSD) had no possibility of extra physical activity. At the end of the four weeks, we measured the effects of VR on various metabolic syndrome-associated parameters: (i) biochemical parameters, (ii) the content and composition of triacylglycerols (TAG), diacylglycerols (DAG), ceramides and membrane phospholipids, and (iii) substrate utilization in brown adipose tissue. In both dietary groups, VR led to various positive effects: reduced epididymal and perirenal fat depots; increased epididymal adipose tissue lipolysis; decreased amounts of serum TAG, non-esterified fatty acids and insulin; a higher insulin sensitivity index. While tissue ceramide content was not affected, decreased TAG accumulation resulted in reduced and modified liver, heart and skeletal muscle DAG. VR also had a beneficial effect on muscle membrane phospholipid composition. In addition, compared with the CD group, the CD+VR rats exhibited increased fatty acid oxidation and protein content in brown adipose tissue. Our results confirm that physical activity in a non-obese model of severe dyslipidemia has many beneficial effects and can even counteract the negative effects of sucrose consumption. Furthermore, they suggest that the mechanism by which these effects are modulated involves a combination of several positive changes in lipid metabolism. PMID:25830228

Positive effects of voluntary running on metabolic syndrome-related disorders in non-obese hereditary hypertriacylglycerolemic rats.

PubMed

Škop, Vojt ch; Malínská, Hana; Trnovská, Jaroslava; Hüttl, Martina; Cahová, Monika; Blachnio-Zabielska, Agnieszka; Baranowski, Marcin; Burian, Martin; Oliyarnyk, Olena; Kazdová, Ludmila

2015-01-01

While metabolic syndrome is often associated with obesity, 25% of humans suffering from it are not obese and the effect of physical activity remains unclear in such cases. Therefore, we used hereditary hypertriaclyglycerolemic (HHTg) rats as a unique model for studying the effect of spontaneous physical activity [voluntary running (VR)] on metabolic syndrome-related disorders, such as dyslipidemia, in non-obese subjects. Adult HHTg males were fed standard (CD) or high-sucrose (HSD) diets ad libitum for four weeks. Within both dietary groups, some of the rats had free access to a running wheel (CD+VR, HSD+VR), whereas the controls (CD, HSD) had no possibility of extra physical activity. At the end of the four weeks, we measured the effects of VR on various metabolic syndrome-associated parameters: (i) biochemical parameters, (ii) the content and composition of triacylglycerols (TAG), diacylglycerols (DAG), ceramides and membrane phospholipids, and (iii) substrate utilization in brown adipose tissue. In both dietary groups, VR led to various positive effects: reduced epididymal and perirenal fat depots; increased epididymal adipose tissue lipolysis; decreased amounts of serum TAG, non-esterified fatty acids and insulin; a higher insulin sensitivity index. While tissue ceramide content was not affected, decreased TAG accumulation resulted in reduced and modified liver, heart and skeletal muscle DAG. VR also had a beneficial effect on muscle membrane phospholipid composition. In addition, compared with the CD group, the CD+VR rats exhibited increased fatty acid oxidation and protein content in brown adipose tissue. Our results confirm that physical activity in a non-obese model of severe dyslipidemia has many beneficial effects and can even counteract the negative effects of sucrose consumption. Furthermore, they suggest that the mechanism by which these effects are modulated involves a combination of several positive changes in lipid metabolism.

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

PubMed

Kutkowska-Kaźmierczak, Anna; Niepokój, Katarzyna; Wertheim-Tysarowska, Katarzyna; Giza, Aleksandra; Mordasewicz-Goliszewska, Maria; Bal, Jerzy; Obersztyn, Ewa

2015-08-01

Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification.

Quadriceps Weakness, Patella Alta and Structural Features of Patellofemoral Osteoarthritis: The Multicenter Osteoarthritis Study

PubMed Central

Stefanik, Joshua J.; Guermazi, Ali; Zhu, Yanyan; Zumwalt, Ann C.; Gross, K. Douglas; Clancy, Margaret; Lynch, John A.; Segal, Neil A.; Lewis, Cora E.; Roemer, Frank W.; Powers, Christopher M.; Felson, David T.

2011-01-01

Objective To determine the relationship between quadriceps weakness and cartilage damage and bone marrow lesions (BMLs) in the patellofemoral joint (PFJ), and if this relationship is modified by patella alta. Methods The Multicenter Osteoarthritis (MOST) Study is a cohort study of persons aged 50–79 years with or at risk for knee OA. Concentric knee extensor strength was measured using an isokinetic dynamometer. Patella alta was measured using the Insall-Salvati ratio (ISR) on the lateral radiograph, and cartilage damage and bone marrow lesions (BMLs) were graded on MRI in the PFJ. We determined the association between quadriceps weakness with cartilage damage and BMLs in the PFJ among those knees with (ISR≥1.2) and without patella alta (ISR<1.2) using multiple binomial regression. Results 807 knees were studied (mean age 62 years, BMI 30, ISR 1.10), 64% from female subjects. Compared with knees in the highest strength tertile, those in the lowest had 10.2% {95% Confidence Interval (CI) 3–18}, 9.1% (95% CI 2–16), and 7.1% (95% CI 1–13) higher prevalence of lateral PFJ cartilage damage, medial PFJ cartilage damage, and lateral PFJ BMLs, respectively. The association between quadriceps weakness with cartilage damage and BMLs was not different between knees with and with out patella alta in the lateral PFJ. Conclusion Quadriceps weakness was associated with PFJ cartilage damage and BMLs. While both patella alta and quadriceps weakness are associated with PFJ damage, the combination of the two was not associated with more damage than either of these factors alone. PMID:21702087

Retained portion of latex glove during femoral nailing. Case report.

PubMed

Sadat-Ali, M; Marwah, S; al-Habdan, I

1996-11-01

A case of retained glove during Kuntscher intramedullary nailing is described. An abscess around the glove could have lead to osteomyelitis. One need to be cautious feeling the top end of the nail while femoral nailing to avoid such a complication.

Nail Care Products

MedlinePlus

... Acrylics") Artificial nails are composed primarily of acrylic polymers and are made by reacting together acrylic monomers, such as ethyl methacrylate monomer, with acrylic polymers, such as polymethylmethacrylate. When the reaction is completed, ...

What the physician needs to know about Lynch syndrome: an update.

PubMed

Lynch, Henry T; Lynch, Jane F

2005-04-01

The Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), is the most common form of hereditary colorectal cancer (CRC), accounting for 2% to 7% of all CRC cases. The next most common hereditary CRC syndrome is familial adenomatous polyposis (FAP), which accounts for less than 1% of all CRC. Lynch syndrome is of crucial clinical importance due to the fact that it predicts the lifetime risk for CRC and a litany of extra-CRC cancers (of the endometrium, ovary, stomach, small bowel, hepatobiliary tract, upper uroepithelial tract, and brain) through assessment of a well-orchestrated family history. A Lynch syndrome diagnosis is almost certain when a mutation in a mismatch repair gene--most commonly MSH2, MLHI, or, to a lesser degree, MSH6--is identified. Once diagnosed, the potential for significant reduction in cancer-related morbidity and mortality through highly targeted surveillance may be profound. Particularly important is colonoscopy initiated at an early age (ie, 25 years) and repeated annually due to accelerated carcinogenesis. In women, endometrial aspiration biopsy and transvaginal ultrasound are important given the extraordinarily high risk for endometrial and ovarian carcinoma. These cancer control strategies have a major impact on at-risk family members once they have been counseled and educated thoroughly about Lynch syndrome's natural history and their own hereditary cancer risk.

Effects of static stretching of knee musculature on patellar alignment and knee functional disability in male patients diagnosed with knee extension syndrome: A single-group, pretest-posttest trial.

PubMed

Pourahmadi, Mohammad Reza; Ebrahimi Takamjani, Ismail; Hesampour, Kazem; Shah-Hosseini, Gholam Reza; Jamshidi, Ali Ashraf; Shamsi, Mohammad Bagher

2016-04-01

Knee extension (Kext) syndrome is based on movement system impairments and is described as knee pain associated with quadriceps stiffness. To investigate the effects of 3 times per week for 4 weeks static stretching of knee musculature on patellar alignment and knee functional disability in male Kext syndrome patients. A single-group, pretest-posttest clinical trial. Hazrat-e-Rasoul Akram Hospital. Forty-six male Kext syndrome patients aged 18-35 years. Knee functional disability was assessed by the Kujala questionnaire. Patellar tilt was assessed using the skyline view X-ray. In addition, patella alta was assessed by X-ray using the Insall-Salvati ratio. After intervention, changes in knee flexion-extension range of motion (ROM) and hip adduction were assessed by goniometer and inclinometer. Changes in patellar tilt and patella alta were evaluated. Correlations between muscles length, patellar tilt and knee functional disability were also evaluated. The mean of patellar tilt in male Kext syndrome patients was 15.19°. Only the correlation between rectus femoris shortness and patellar tilt (P = 0.002) and the correlation between rectus femoris shortness and knee functional disability (P = 0.037) were significant. Patella alta was not severe in male Kext syndrome patients (1.28 ± 0.10). Knee flexion-extension ROM and femoral adduction increased significantly after a 12-session stretching programme (P < 0.0001). The results demonstrated that rectus femoris shortness had higher correlation with patellar tilt and knee functional disability than iliotibial band and hamstring shortness. Stretching was effective in reducing patellar tilt, patella alta, knee functional disability, increasing knee ROM and hip adduction in these patients. Copyright © 2015 Elsevier Ltd. All rights reserved.

Extensive comedonal and cystic acne in Patau syndrome.

PubMed

Torrelo, Antonio; Fernandez-Crehuet, Pablo; Del Prado, Elena; Martes, Pilar; Hernández-Martín, Angela; De Diego, Verónica; Carapeto, Francisco

2010-01-01

Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). Some skin defects have been reported in patients with Patau syndrome, such as scalp defects, glabellar stains, deep palmar creases, rocker-bottom feet, convex soles, hyperconvextity of the nails, and multiple hemangiomas. To our knowledge, widespread comedonal and cystic acne have not been previously reported in Patau syndrome.

Identification, genetic testing, and management of hereditary melanoma.

PubMed

Leachman, Sancy A; Lucero, Olivia M; Sampson, Jone E; Cassidy, Pamela; Bruno, William; Queirolo, Paola; Ghiorzo, Paola

2017-03-01

Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate." Syndromes in which melanoma is a predominant cancer type are considered melanoma dominant, although other cancers, such as mesothelioma or pancreatic cancers, may also be observed. These syndromes are associated with defects in CDKN2A, CDK4, BAP1, MITF, and POT1. Melanoma-subordinate syndromes have an increased but lower risk of melanoma than that of other cancer(s) seen in the syndrome, such as breast and ovarian cancer or Cowden syndrome. Many of these melanoma-subordinate syndromes are associated with well-established predisposition genes (e.g., BRCA1/2, PTEN). It is likely that these predisposition genes are responsible for the increased susceptibility to melanoma as well but with lower penetrance than that observed for the dominant cancer(s) in those syndromes. In this review, we describe our extension of the "rule of twos and threes" for melanoma genetic testing. This algorithm incorporates an understanding of the spectrum of cancers and genes seen in association with melanoma to create a more comprehensive and tailored approach to genetic testing.

Hereditary stomatocytosis: association of low 2,3-diphosphoglycerate with increased cation pumping by the red cell.

PubMed

Wiley, J S; Cooper, R A; Adachi, K; Asakura, T

1979-01-01

The levels of glycolytic intermediates have been measured in red cells from patients with both overhydrated and dehydrated varieties of the hereditary stomatocytosis syndrome. Red cell 2,3-diphosphoglycerate was reduced by 33% below normal in all patients with either stomatocyte or target cell morphologies (i.e. over or under hydrated varieties respectively). The relative decrement in 2,3-diphosphoglycerate was even greater when abnormal cells were compared with control cells with similar reticulocytosis. Red cell ADP concentrations in stomatocytosis were significantly increased above normal but ATP concentrations were not significantly changed. Whole blood oxygen affinity in stomatocytosis was increased in proportion to the lowered content of diphosphoglycerate. Some new parameters of membrane transport in hereditary stomatocytosis have been measured. Platelet K+ and Na+ concentrations and platelet K+ permeability were normal in stomatocytosis. The number of 3H-uridine transport sites in stomatocytes were increased by 9-39% above normal and this increment was the same as the increment in red cell lipids (0-38%). Hereditary stomatocytes contain 2-10-fold more cation pumps than normal and the increased active cation pumping may explain the high ADP, the low 2,3-diphosphoglycerate concentration and the increased oxygen affinity in this syndrome.

Pediatric Diaphyseal Femur Fractures: Submuscular Plating Compared With Intramedullary Nailing.

PubMed

Sutphen, Sean A; Mendoza, Juan D; Mundy, Andrew C; Yang, Jingzhen G; Beebe, Allan C; Samora, Walter P; Klingele, Kevin E

2016-11-01

This study compared the radiographic and clinical outcomes of pediatric diaphyseal femur fractures treated by submuscular plating, flexible retrograde intramedullary nailing, or rigid antegrade intramedullary nailing with a trochanteric entry point in skeletally immature patients who were 8 years and older. A retrospective review was conducted of skeletally immature patients 8 years and older who were treated for femur fracture with submuscular plating, flexible intramedullary nailing, or rigid intramedullary nailing from 2001 to 2014 with a minimum 12-week follow-up. Treatment outcomes were compared for statistical significance, including time to union, malunion, nonunion, heterotopic ossification, avascular necrosis, time to full weight bearing, limb length discrepancy, residual limp, painful hardware, and infection. The study identified 198 femur fractures in 196 patients (mean age, 11.9 years). Each femur fracture was treated with submuscular plating (35), flexible intramedullary nailing (61), or rigid intramedullary nailing (102). Mean follow-up across the cohort was 48 weeks, ranging from 12 to 225 weeks. Flexible nailing was associated with an increased incidence of malunion (P<.0001) and hardware irritation (P=.0204) and longer time to full weight bearing (P=.0018). Rigid nailing was associated with an increased incidence of limp at 12-week followup (P=.0412). Additionally, 23.5% of patients who were treated with rigid nailing had heterotopic ossification. Of all surgical methods, submuscular plating allowed for the most rapid return to full weight bearing (mean, 7 weeks) and offered the fastest healing rate (mean, 6 weeks). Submuscular plating resulted in faster times to union and full weight bearing, with minimal complication rates. Rigid intramedullary nailing with trochanteric entry resulted in a lower incidence of malunion and hardware-related complications; however, these patients had an increased incidence of heterotopic ossification and residual

Nail polish poisoning

MedlinePlus

... poisoning URL of this page: //medlineplus.gov/ency/article/002722.htm Nail polish poisoning To use the sharing features on this page, please enable JavaScript. This poisoning is from swallowing or breathing in ( ...

Nail Bed Injuries

MedlinePlus

... and Treatment Find a hand surgeon near you. Videos Figures Figure 1: The anatomy of the nail ... or "in." Also, avoid using media types like "video," "article," and "picture." Tip 4: Your results can ...

[Should one choose the nail or the plate in treating a leg fracture?].

PubMed

Vives, P; Massy, E; Dubois, P; Decoopmann, P

1975-12-01

The authors have analysed the results of 126 tibial fractures treated by blind nailing with reaming and 112 tibial fractures treated by plating. They noted 5 septic complications after nailing, after plating, one non-union after nailing and 12 after plating, 3 malunions after nailing and 2 after plating. The cases treated by nailing united earlier. The Authors conclude that nailing is a more fiable technique than plating, and that the only fractures which should be plated are those which are not fit for nailing.

Functional Analysis and Treatment of Nail Biting

ERIC Educational Resources Information Center

Dufrene, Brad A.; Watson, T. Steuart; Kazmerski, Jennifer S.

2008-01-01

This study applied functional analysis methodology to nail biting exhibited by a 24-year-old female graduate student. Results from the brief functional analysis indicated variability in nail biting across assessment conditions. Functional analysis data were then used to guide treatment development and implementation. Treatment included a…

Can turned inward patella predict an excess of femoral anteversion during gait in spastic diplegic children?

PubMed

Simon, Anne-Laure; Presedo, Ana; Ilharreborde, Brice; Mallet, Cindy; Mazda, Keyvan; Penneçot, Georges-François

2014-06-01

Determining patellar orientation in the transverse plane during observational gait analysis is a fundamental aspect of physical examinations. Many physicians consider that an abnormal position of the patella in the transverse planes is only explained by a rotational abnormality of the proximal femur. A total of 188 spastic diplegic children with cerebral palsy were reviewed (376 lower limbs). The physical examination included observation of patellar orientation at midstride and measuring femoral anteversion (FA). All patients also underwent 3-dimensional (3D) computerized gait analysis of pelvic and hip rotation kinematics. Observational gait analysis and videotapes found 103 children (206 lower limbs) with inturned patella at midstance. Kinematic data from 3D gait analysis showed that the visual impression of turned inward patella was erroneous in 48 limbs. Of the remaining 158 lower limbs, 117 (74%) exhibited excessive FA and 41 (26%) did not. Of the 117 with excessive FA, kinematics showed only 66 (56%) with excessive internal hip rotation (with or without excessive internal pelvic rotation). Of the 41 lower limbs without excessive FA, 25 were explained by excessive internal pelvic rotation and 16 were explained by excessive internal hip rotation (isolated spasticity and/or contracture of internal rotator muscles). Turned inward patella was caused by isolated excessive internal pelvic rotation in 48%, excessive internal hip rotation in 35% (including 44 cases with excessive FA and 12 cases with isolated spasticity and/or contracture of internal hip rotators), and excessive internal hip rotation combined with excessive internal pelvic rotation in 17%. Excessive FA was not the only cause of turned inward patella gait and could not explain this gait anomaly by itself. Excessive internal pelvic rotation was the most frequent cause of turned inward patella gait. Level IV.

Patella Fracture Fixation with Suture and Wire: you Reap what you Sew

PubMed Central

Egol, Kenneth; Howard, Daniel; Monroy, Alexa; Crespo, Alexander; Tejwani, Nirmal; Davidovitch, Roy

2014-01-01

Introduction Operative fixation of displaced inferior pole patella fractures has now become the standard of care. This study aims to quantify clinical, radiographic and functional outcomes, as well as identify complications in a cohort of patients treated with non-absorbable braided suture fixation for inferior pole patellar fractures. These patients were then compared to a control group of patients treated for mid-pole fractures with K-wires or cannulated screws with tension band wiring. Methods In this IRB approved study, we identified a cohort of patients who were diagnosed and treated surgically for a displaced patella fracture. Demographic, injury, and surgical information were recorded. All patients were treated with a standard surgical technique utilizing non-absorbable braided suture woven through the patellar tendon and placed through drill holes to achieve reduction and fracture fixation. All patients were treated with a similar post-operative protocol and followed up at standard intervals. Data were collected concurrently at follow up visits. For purpose of comparison, we identified a control cohort with middle third patella fractures treated with either k-wires or cannulated screws and tension band technique. Patients were followed by the treating surgeon at regular follow-up intervals. Outcomes included self-reported function and knee range of motion compared to the uninjured side. Results Forty-nine patients with 49 patella fractures identified retrospectively were treated over 9 years. This cohort consisted of 31 females (63.3%) and 18 males (36.7%) with an average age of 57.1 years (range 26 - 88 years). Patients had an average BMI of 26.48 (range 19 - 44.08). Thirteen patients with inferior pole fractures underwent suture fixation and 36 patients with mid-pole fractures underwent tension band fixation (K-wire or cannulated screws with tension band). In the suture cohort, one fracture failed open repair (7.6%), which was revised again with sutures

Patella fracture fixation with suture and wire: you reap what you sew.

PubMed

Egol, Kenneth; Howard, Daniel; Monroy, Alexa; Crespo, Alexander; Tejwani, Nirmal; Davidovitch, Roy

2014-01-01

Operative fixation of displaced inferior pole patella fractures has now become the standard of care. This study aims to quantify clinical, radiographic and functional outcomes, as well as identify complications in a cohort of patients treated with non-absorbable braided suture fixation for inferior pole patellar fractures. These patients were then compared to a control group of patients treated for mid-pole fractures with K-wires or cannulated screws with tension band wiring. In this IRB approved study, we identified a cohort of patients who were diagnosed and treated surgically for a displaced patella fracture. Demographic, injury, and surgical information were recorded. All patients were treated with a standard surgical technique utilizing non-absorbable braided suture woven through the patellar tendon and placed through drill holes to achieve reduction and fracture fixation. All patients were treated with a similar post-operative protocol and followed up at standard intervals. Data were collected concurrently at follow up visits. For purpose of comparison, we identified a control cohort with middle third patella fractures treated with either k-wires or cannulated screws and tension band technique. Patients were followed by the treating surgeon at regular follow-up intervals. Outcomes included self-reported function and knee range of motion compared to the uninjured side. Forty-nine patients with 49 patella fractures identified retrospectively were treated over 9 years. This cohort consisted of 31 females (63.3%) and 18 males (36.7%) with an average age of 57.1 years (range 26-88 years). Patients had an average BMI of 26.48 (range 19-44.08). Thirteen patients with inferior pole fractures underwent suture fixation and 36 patients with mid-pole fractures underwent tension band fixation (K-wire or cannulated screws with tension band). In the suture cohort, one fracture failed open repair (7.6%), which was revised again with sutures and progressed to union. Of the 36

Anterior knee pain following total knee replacement correlates with the OARSI score of the cartilage of the patella.

PubMed

Metsna, Vahur; Vorobjov, Sigrid; Lepik, Katrin; Märtson, Aare

2014-08-01

Attempts to relate patellar cartilage involvement to anterior knee pain (AKP) have yielded conflicting results. We determined whether the condition of the cartilage of the patella at the time of knee replacement, as assessed by the OARSI score, correlates with postsurgical AKP. We prospectively studied 100 patients undergoing knee arthroplasty. At surgery, we photographed and biopsied the articular surface of the patella, leaving the patella unresurfaced. Following determination of the microscopic grade of the patellar cartilage lesion and the stage by analyzing the intraoperative photographs, we calculated the OARSI score. We interviewed the patients 1 year after knee arthroplasty using the HSS patella score for diagnosis of AKP. 57 of 95 patients examined had AKP. The average OARSI score of painless patients was 13 (6-20) and that of patients with AKP was 15 (6-20) (p = 0.04). Patients with OARSI scores of 13-24 had 50% higher risk of AKP (prevalence ratio = 1.5, 95% CI: 1.0-2.3) than patients with OARSI scores of 0-12. The depth and extent of the cartilage lesion of the knee-cap should be considered when deciding between the various options for treatment of the patella during knee replacement.

[Preliminary investigation on the pathogeny, diagnosis and treatment of chondromalacia patella].

PubMed

Ye, Q B; Wu, Z H; Wang, Y P; Lin, J; Qiu, G X

2001-04-01

This paper presents the preliminary investigation on chondromalacia patella at our department in recent years. A random cluster sampling survey covering 2743 normal persons was carried out. The prevalence rate is 36.2%. It was found that, applying transmission electron microscope and immunohistochemical methods on to cartilage tissues of the abnormal region, articular cartilage necrosis was in direct proportion with the abnormal pressure, while the restoration capability of local chondrocytes was in inverse proportion with pathological changes and the pressure. The chondromalacia patella was produced by repeated abnormal stress acting on the cartilage. The stress derived from the uncongruency and the decreasing in the contact area of patellofemoral joint when the subluxation or tilt of patellae was caused by the abnormal anatomical and biomechanical relationship. The initial lesion was at the matrix of cartilage, the collagen network was disrupted, then proteoglycan was lost. The microenvironment of chondrocytes was changed with degradation of matrix. So the chondrocytes became degenerative and necrosis from superficial to deep layer, then feed back the matrix again. Finally, the total cartilage layer might disappear, and the bone under cartilage might proliferate. At late stage, the cartilage was completely destroyed and had no self-restorative ability. Therefore, early diagnosis and treatment are necessary. It is highly suggested axis radiograph of the knee with the tibiae tuberositas localization are helpful to early diagnosis. Furthermore, JKY-Muscle Rehabilitation Instrument is invented for non-operative therapy. It enhances muscle power by selective training of the vastus medialis muscle using electrical stimulator to relieve pain and correct subluxation of patella with 90% efficiency (63% of excellent-effective rate). In late stage, patellofemoral replacement is recommended. The excellent-effective rate is 86.3%.

The diagnostic value of the Clarke sign in assessing chondromalacia patella.

PubMed

Doberstein, Scott T; Romeyn, Richard L; Reineke, David M

2008-01-01

Various techniques have been described for assessing conditions that cause pain at the patellofemoral (PF) joint. The Clarke sign is one such test, but the diagnostic value of this test in assessing chondromalacia patella is unknown. To (1) investigate the diagnostic value of the Clarke sign in assessing the presence of chondromalacia patella using arthroscopic examination of the PF joint as the "gold standard," and (2) provide a historical perspective of the Clarke sign as a clinical diagnostic test. Validation study. All patients of one of the investigators who had knee pain or injuries unrelated to the patellofemoral joint and were scheduled for arthroscopic surgery were recruited for this study. A total of 106 otherwise healthy individuals with no history of patellofemoral pain or dysfunction volunteered. The Clarke sign was performed on the surgical knee by a single investigator in the clinic before surgery. A positive test was indicated by the presence of pain sufficient to prevent the patient from maintaining a quadriceps muscle contraction against manual resistance for longer than 2 seconds. The preoperative result was compared with visual evidence of chondromalacia patella during arthroscopy. Sensitivity was 0.39, specificity was 0.67, likelihood ratio for a positive test was 1.18, likelihood ratio for a negative test was 0.91, positive predictive value was 0.25, and negative predictive value was 0.80. Diagnostic validity values for the use of the Clarke sign in assessing chondromalacia patella were unsatisfactory, supporting suggestions that it has poor diagnostic value as a clinical examination technique. Additionally, an extensive search of the available literature for the Clarke sign reveals multiple problems with the test, causing significant confusion for clinicians. Therefore, the use of the Clarke sign as a routine part of a knee examination is not beneficial, and its use should be discontinued.

Nail Problems (Toenails)

MedlinePlus

... the surface of the nail can be PODIAT PHYSIC filed off, followed by the application of an ... toes ◆ Repeated trauma to the feet from normal activities Problems If you suspect an infection due to ...

An anatomically based patient-specific finite element model of patella articulation: towards a diagnostic tool.

PubMed

Fernandez, J W; Hunter, P J

2005-08-01

A 3D anatomically based patient-specific finite element (FE) model of patello-femoral (PF) articulation is presented to analyse the main features of patella biomechanics, namely, patella tracking (kinematics), quadriceps extensor forces, surface contact and internal patella stresses. The generic geometries are a subset from the model database of the International Union of Physiological Sciences (IUPS) (http://www.physiome.org.nz) Physiome Project with soft tissue derived from the widely used visible human dataset, and the bones digitised from an anatomically accurate physical model with muscle attachment information. The models are customised to patient magnetic resonance images using a variant of free-form deformation, called 'host-mesh' fitting. The continuum was solved using the governing equation of finite elasticity, with the multibody problem coupled through contact mechanics. Additional constraints such as tissue incompressibility are also imposed. Passive material properties are taken from the literature and implemented for deformable tissue with a non-linear micro-structurally based constitutive law. Bone and cartilage are implemented using a 'St-Venant Kirchoff' model suitable for rigid body rotations. The surface fibre directions have been estimated from anatomy images of cadaver muscle dissections and active muscle contraction was based on a steady-state calcium-tension relation. The 3D continuum model of muscle, tendon and bone is compared with experimental results from the literature, and surgical simulations performed to illustrate its clinical assessment capabilities (a Maquet procedure for reducing patella stresses and a vastus lateralis release for a bipartite patella). Finally, the model limitations, issues and future improvements are discussed.

Knee arthrodesis using a short locked intramedullary nail. A new technique.

PubMed

Cheng, S L; Gross, A E

1995-01-01

This article reports on the use of a new intramedullary nail designed specifically for fixation of knee fusions. The nail is a short locked stainless steel nail that is inserted through a single anterior knee incision and uses an outrigger targeting rod to guide the insertion of the locking screws. The successful use of this technique is illustrated in two cases. The advantages of this nail compared with previously reported techniques of fixation for knee fusions are that the short locked nail avoids the second incision required for the insertion of long knee fusion nails, the bulkiness of the double plating technique in the relatively subcutaneous anterior knee area, and the difficulties inherent with the prolonged use of pins for external fixation.

Partial Removal of Nail Matrix in the Treatment of Ingrown Nails: Prospective Randomized Control Study Between Curettage and Electrocauterization.

PubMed

Kim, Maru; Song, In-Guk; Kim, Hyung Jin

2015-06-01

The aim of this study was to compare the result of electrocauterization and curettage, which can be done with basic instruments. Patients with ingrown nail were randomized to 2 groups. In the first group, nail matrix was removed by curettage, and the second group, nail matrix was removed by electrocautery. A total of 61 patients were enrolled; 32 patients were operated by curettage, and 29 patients were operated by electrocautery. Wound infections, as early complication, were found in 15.6% (5/32) of the curettage group, 10.3% (3/29) of the electrocautery group patients each (P = .710). Nonrecurrence was observed in 93.8% (30/32) and 86.2% (25/29) of the curettage and electrocautery groups, respectively, (lower limit of 1-sided 90% confidence interval = -2.3% > -15% [noninferiority margin]). To remove nail matrix, the curettage is effective as well as the electrocauterization. Further study is required to determine the differences between the procedures. © The Author(s) 2014.

Hand injury with a nail gun: a case report with literature review.

PubMed

Boya, Hakan; Uzun, Belkan

2015-01-01

The nail gun was introduced in the late 1950s to increase the ease of driving nails, studs, bolts, or staples into various hard surfaces. The nail gun is a potentially dangerous device that is still commonly used in the construction industry. Since its introduction, an increasing number of studies have reported injuries associated with nail guns. Nail gun-related injuries-such as to the head, neck, and chest-can be devastating, and in some cases, even fatal. Extremity injuries, notably in the hand, can cause loss of function, missed work, and long-term health effects. This case report describes a nail-gun injury of the hand along with a discussion of the unique features of and treatment strategies for nail gun injuries.

The use of topical minoxidil to accelerate nail growth: a pilot study.

PubMed

Aiempanakit, Kumpol; Geater, Alan; Limtong, Preeyachat; Nicoletti, Kathleen

2017-07-01

Linear nail growth rate is affected by various conditions, one of which is the level of blood flow. Our supposition was that topical minoxidil, which has vasodilatory properties, can increase the rate of nail growth. The aim of this study was to determine the impact of topical minoxidil on nail growth. A 5% topical minoxidil solution was applied twice daily to the fingernails of 32 participants. Two groups of 16 participants were randomly chosen. In one group, the applications were made to the right index and left ring fingernails, and, in the other, the left index and right ring fingernails. During each visit (weekly during the first month and every 2 weeks during the second month), the nail length of six fingernails (index, middle, and ring of both hands) was measured using a digital caliper. Beginning in the first week, the mean nail length of the treated nails was greater than that of nails in the untreated group with statistical significance. There were no systemic or cutaneous side effects. During the first month, the mean growth of the treated nails was 4.27 mm/month compared with 3.91 mm/month in the untreated nails (P = 0.003). These findings suggest that a 5% concentration of topical minoxidil can stimulate nail growth with increased growth beginning in the first week of application. The results may have important implications for the treatment of nail disorders; however, a comparable study involving participants with nail disorders is highly recommended. © 2017 The International Society of Dermatology.

The role of autologous chondrocyte implantation in the treatment of symptomatic chondromalacia patellae.

PubMed

Macmull, Simon; Jaiswal, Parag K; Bentley, George; Skinner, John A; Carrington, Richard W J; Briggs, Tim W R

2012-07-01

Chondromalacia patella is a distinct clinical entity of abnormal softening of the articular cartilage of the patella, which results in chronic retropatellar pain. Its aetiology is still unclear but the process is thought to be a due to trauma to superficial chondrocytes resulting in a proteolytic enzymic breakdown of the matrix. Our aim was to assess the effectiveness of autologous chondrocyte implantation on patients with a proven symptomatic retropatellar lesion who had at least one failed conventional marrow-stimulating therapy. We performed chondrocyte implantation on 48 patients: 25 received autologous chondrocyte implantation with a type I/III membrane (ACI-C) method (Geistlich Biomaterials, Wolhusen, Switzerland), and 23 received the Matrix-assisted Chondrocyte Implantation (MACI) technique (Genzyme, Kastrup, Denmark). Over a mean follow-up period of 40.3 months, there was a statistically significant improvement in subjective pain scoring using the visual analogue scale (VAS) and objective functional scores using the Modified Cincinnati Rating System (MCS) in both groups. Chondromalacia patellae lesions responded well to chondrocyte implantation. Better results occurred with MACI than with ACI-C. Excellent and good results were achieved in 40% of ACI-C patients and 57% of MACI patients, but success of chondrocyte implantation was greater with medial/odd-facet lesions. Given that the MACI procedure is technically easier and less time consuming, we consider it to be useful for treating patients with symptomatic chondral defects secondary to chondromalacia patellae.

Treatment of patella baja by a modified Z-plasty.

PubMed

Guido, Wierer; Christian, Hoser; Elmar, Herbst; Elisabeth, Abermann; Christian, Fink

2016-09-01

The purpose of this study was to evaluate the efficiency of a modified Z-plasty for patellar tendon lengthening for the treatment of patella baja. Rather than adapting only two tendon reins according to the conventional Z-plasty method, the modified Z-plasty provides four reins to enable multifold overlapping of the tendon tissue. Between 2010 and 2012, a modified Z-plasty procedure was performed in four patients suffering from patella baja. Physical examinations and standardized scoring instruments served as the evaluation measures. The median preoperative CD ratio of 0.53 (range 0.43-0.62) was corrected to 1.03 (range 1-1.06) after a median follow-up of 34 months (range 23-41 months). The median preoperative flexion of 108° (range 80-135°) improved to 143° (range 110-145°) compared with the flexion of 145° (range 140-145°) of the unaffected knee. No patients showed any signs of extension lag. The median Lysholm score improved from 49 (range 22-80) to 91 (range 67-95), and the Tegner activity level improved from 2 (range 0-6) to 6 (range 2-6). The median VAS status for pain decreased from an average of 8.5 (range 4-10) to 1 (range 0-2). No complications were observed. The modified Z-plasty procedure is a valuable technique for the treatment of patella baja, especially if allografts are not available. This procedure allowed for early mobilization and achieved excellent clinical results. IV.

Managing Chemotherapy Side Effects: Skin and Nail Changes

MedlinePlus

... ational C ancer I nstitute Managing Chemotherapy Side Effects Skin and Nail Changes “I was glad to ... services national institutes of health Managing Chemotherapy Side Effects: Skin and Nail Changes Protect your skin from ...

Knee arthrodesis with the Wichita fusion nail.

PubMed

Domingo, L J; Caballero, M J; Cuenca, J; Herrera, A; Sola, A; Herrero, L

2004-02-01

We reviewed 32 patients who all had knee arthrodesis performed after failed knee replacement. The minimum clinical follow-up was 1 year. The arthrodesis was performed by means of the Wichita fusion nail in 11, by external fixation in 15 cases, by plating in three and by intramedullary nailing in three. The mean patient age was 68.6 years. When the Wichita nail was used, fusion was achieved in ten out of 11 cases after a mean period of 4.5 (3-7) months. Of the remaining 21 patients, fusion was only achieved in 11 cases after a mean period of 6.5 (4.5-10) months.

Mycobacteria in nail salon whirlpool footbaths, California.

PubMed

Vugia, Duc J; Jang, Yvonne; Zizek, Candi; Ely, Janet; Winthrop, Kevin L; Desmond, Edward

2005-04-01

In 2000, an outbreak of Mycobacterium fortuitum furunculosis affected customers using whirlpool footbaths at a nail salon. We swabbed 30 footbaths in 18 nail salons from 5 California counties and found mycobacteria in 29 (97%); M. fortuitum was the most common. Mycobacteria may pose an infectious risk for pedicure customers.

Hereditary spherocytic anemia with deletion of the short arm of chromosome 8

DOE Office of Scientific and Technical Information (OSTI.GOV)

Okamoto, Nobuhiko; Wada, Yoshinao; Nakamura, Yoich

1995-09-11

We describe a 30-month-old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XYdel(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p- have been reported. In these patients, severe mental retardation and multiple anomalies are common findings. This is a new contiguous gene syndrome. Lux established that ankyrin deficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manifestations of this syndrome. Patients with spherocytic anemia and multiplemore » congenital anomalies should be investigated by high-resolution chromosomal means to differentiate this syndrome. 14 refs., 3 figs., 2 tabs.« less

Pulmonary fat embolism after reamed and unreamed nailing of femoral fractures.

PubMed

Högel, F; Gerlach, U V; Südkamp, N P; Müller, C A

2010-12-01

To determine whether reamed or unreamed intramedullary nailing of femoral fractures results in higher incidence of pulmonary fat embolism, three different methods of intramedullary nailing were compared in sheep. To analyze the presence of bone marrow fat embolism in pulmonary arteries, histological evaluation was undertaken using a quantitative computer-assisted measurement system. In this experimental model of 27 female Swiss alpine sheep, an osteotomy of the proximal femur was conducted in each animal. Then, the animals were divided into three groups according to the method of treatment: two different reamed intramedullary nailing techniques and an unreamed nailing technique were used. In the first group "ER" (experimental reamer; n=9), the nail was inserted after reaming with an experimental reamer; in the second group "CR" (conventional reamer; n=7), the intramedullary nail was inserted after reaming with the conventional AO-reamer. In the third group "UN" (unreamed; n=8) unreamed nailing was performed. During the operation procedure intramedullary pressure was measured in the distal fragment. After sacrificing the animals, quantitative histological analyses of bone marrow fat embolism in pulmonary arteries were done using osmium tetroxide fixation and staining of the fat. The measurement of intramedullary pressure showed significantly lower values for reamed nailing than for the unreamed technique. The quantitative histological evaluation of lung vessels concerning bone marrow fat embolism revealed a statistically significant difference between reamed and unreamed insertion of the nail: 7.77%±6.93 (ER) and 6.66%±5.61 (CR) vs. 16.25%±10.05 (UN) (p<0.05) of the assessed lung vessels were filled with fat emboli. However, no difference was found between the traditional and experimental reamer. Intramedullary nailing after reaming is a safe procedure with low systemic embolisation when compared to the unreamed insertion of the nail. Copyright © 2010 Elsevier

Allergic contact dermatitis from acrylic nails in a flamenco guitarist.

PubMed

Alcántara-Nicolás, F A; Pastor-Nieto, M A; Sánchez-Herreros, C; Pérez-Mesonero, R; Melgar-Molero, V; Ballano, A; De-Eusebio, E

2016-12-01

Acrylates are molecules that are well known for their strong sensitizing properties. Historically, many beauticians and individuals using store-bought artificial nail products have developed allergic contact dermatitis from acrylates. More recently, the use of acrylic nails among flamenco guitarists to strengthen their nails has become very popular. A 40-year-old non-atopic male patient working as a flamenco guitarist developed dystrophy, onycholysis and paronychia involving the first four nails of his right hand. The lesions were confined to the fingers where acrylic materials were used in order to strengthen his nails to play the guitar. He noticed improvement whenever he stopped using these materials and intense itching and worsening when he began reusing them. Patch tests were performed and positive results obtained with 2-hydroxyethyl methacrylate (2-HEMA), 2-hydroxyethyl acrylate (2-HEA), ethyleneglycol-dimethacrylate (EGDMA) and 2-hydroxypropyl methacrylate (2-HPMA). The patient was diagnosed with occupational allergic contact dermatitis likely caused by acrylic nails. Artificial nails can contain many kinds of acrylic monomers but most cases of contact dermatitis are induced by 2-HEMA, 2-HPMA and EGDMA. This is the first reported case of occupational allergic contact dermatitis from acrylates in artificial nails in a professional flamenco guitar player. Since the practice of self-applying acrylic nail products is becoming very popular within flamenco musicians, we believe that dermatology and occupational medicine specialists should be made aware of the potentially increasing risk of sensitization from acrylates in this setting. © The Author 2016. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Ciclopirox delivery into the human nail plate using novel lipid diffusion enhancers.

PubMed

Hafeez, Farhaan; Hui, Xiaoying; Selner, Marc; Rosenthal, Bert; Maibach, Howard

2014-06-01

Onychomycosis is a common fungal infection of the nail plate and bed that affects up to 14% of the population and can have a substantial impact on the quality of life of those affected. This study compared the onychopharmacokinetics, nail absorption, nail distribution, and nail penetration of [(14)C]-ciclopirox dissolved in novel lipid diffusion enhancers with that of a commercial ciclopirox nail lacquer using the in vitro finite dose model. The penetration rate of ciclopirox was determined by applying doses of topical formulation twice daily to human nail plates for 11 d. Drug absorption was then measured by monitoring its rate of appearance in each nail layer and in the cotton pad/nail supporting bed. After a multiple day treatment, cumulative concentrations of ciclopirox formulated with lipid enhancers in the deep nail layer and the nail bed were significantly greater than cumulative concentrations of the commercial ciclopirox lacquer (p < 0.001) as well as several orders of magnitude greater than the minimal inhibitory concentration (MIC) deemed necessary to inhibit the growth of the causative dermatophyte species. When formulated with lipid enhancers, the amount of ciclopirox in the ventral/intermediate layer and supporting bed dramatically exceed the inhibitory concentration of ciclopirox for the most common onychomycosis organisms. These results suggest that topical ciclopirox with lipid enhancers has the potential to be an effective topical treatment for onychomycosis, and the lipidic pathway of the nail can be utilized as a means of effective transungual delivery.

Patella Tendon Injuries Secondary to Cement Spacers Used at First-Stage Revision of Infected Total Knee Replacement

PubMed Central

Wilson, Katherine; Kothwal, Rahul; Khan, Wasim S.; Williams, Rhodri; Morgan-Jones, Rhidian

2015-01-01

We describe a series of three patients who sustained patella tendon injuries in infected total knee arthroplasties following the use of a static cement spacer at first-stage knee revision. The patella tendon injuries resulted in significant compromise to wound healing and knee stability requiring multiple surgeries. The mid-term function was poor with an Oxford score at 24 months ranging from 12 to 20. Based on our experience, we advise caution in the use of static cement spacer blocks. If they are to be used, we recommend that they should be keyed in the bone to prevent patella tendon injuries. PMID:25905106

Nail involvement in patients with moderate-to-severe alopecia areata treated with oral tofacitinib.

PubMed

Lee, Ji Su; Huh, Chang-Hun; Kwon, Ohsang; Yoon, Hyun-Sun; Cho, Soyun; Park, Hyun-Sun

2018-05-07

A few anecdotal case reports demonstrated that tofacitinib improved nail changes associated with AA. To investigate nail changes in patients with AA treated with tofacitinib and evaluate the relationship between nail and hair responses to tofacitinib. This is a retrospective study of 33 adult patients with moderate-to-severe AA treated with oral tofacitinib monotherapy for at least 4 months. Fifteen patients had nail involvement and demonstrated more severe hair loss than those without nail involvement (p = .040). However, there was no significant difference in hair regrowth between two groups. Of 15 patients with nail involvement, 11 (73.3%) showed improvement regardless of type of nail change; the first improvement was observed at a median of 5 months (range, 1-11) after administration. Nail improvement was associated with neither initial severity of hair loss nor hair response to tofacitinib. Nail improvement tended to occur later than hair regrowth. Oral tofacitinib monotherapy improves nail involvement associated with AA. Nail involvement is not a poor prognosis factor in hair regrowth with tofacitinib treatment and there is no evident relationship between nail and hair responses.

Mycobacteria in Nail Salon Whirlpool Footbaths, California

PubMed Central

Jang, Yvonne; Zizek, Candi; Ely, Janet; Winthrop, Kevin L.; Desmond, Edward

2005-01-01

In 2000, an outbreak of Mycobacterium fortuitum furunculosis affected customers using whirlpool footbaths at a nail salon. We swabbed 30 footbaths in 18 nail salons from 5 California counties and found mycobacteria in 29 (97%); M. fortuitum was the most common. Mycobacteria may pose an infectious risk for pedicure customers. PMID:15829204

Knee arthodesis using a modular customized intramedullary nail.

PubMed

Letartre, R; Combes, A; Autissier, G; Bonnevialle, N; Gougeon, F

2009-11-01

Arthrodesis of the knee, particularly in infectious situations, can be achieved using either an external fixator or an intramedullary device. The objective of this study is to report the clinical, functional, and radiographic outcomes of a continuous series of 19 cases of knee arthrodesis using a customized modular intramedullary nailing system. The modular intramedullary nail offers a satisfactory functional result while maintaining limb length, in spite of a nonunion risk, since acting like a true endoprosthesis. In our retrospective series of 19 patients, the main source of patients were infected total knee replacements. The nail was customized from assembling a dual surface-sanded titanium component (femoral and tibial). The Lequesne Algofunctional score and the WOMAC score were recorded, as well as the length discrepancy between the lower extremities. Arthrodesis consolidation and the nail's fit in the shaft were verified on anterior-posterior (AP) and lateral radiographs. Five complications were observed: one anterior cortical break, one excessive tibial rotation, two cases of delayed union, and one nail revision due to residual nail instability. The postoperative Lequesne Algofunctional score was 13/24 and the WOMAC score 57/100. The nonunion rate was 32%. From a functional point of view, the patients who did not achieve complete union and those who did had similar scores. The subjective results were not as good in patients who did not achieve final consolidation. Modular intramedullary nailing simplifies the technique, shortens the procedure, and reduces the amount of blood loss at surgery. Our nonunion rate was high, although the functional result did not seem compromised by such nonunion. The risk of long-term implant failure was not studied and requires longer follow-up studies. Level IV therapeutic study. 2009 Published by Elsevier Masson SAS.

When all you have is a dermatoscope— start looking at the nails

PubMed Central

Haenssle, Holger A.; Blum, Andreas; Hofmann-Wellenhof, Rainer; Kreusch, Juergen; Stolz, Wilhelm; Argenziano, Giuseppe; Zalaudek, Iris; Brehmer, Franziska

2014-01-01

Pigmented and non-pigmented nail alterations are a frequent challenge for dermatologists. A profound knowledge of clinical and dermatoscopic features of nail disorders is crucial because a range of differential diagnoses and even potentially life-threatening diseases are possible underlying causes. Nail matrix melanocytes of unaffected individuals are in a dormant state, and, therefore, fingernails and toenails physiologically are non-pigmented. The formation of continuous, longitudinal pigmented streaks (longitudinal melanonychia) may either be caused by a benign activation of matrix melanocytes (e.g., as a result of trauma, inflammation, or adverse drug reactions) or by a true melanocytic proliferation (e.g., in a nevus or melanoma). In general, non-continuous nail alterations, affecting only limited parts of the nail apparatus, are most frequently of non-melanocytic origin. Important and common differential diagnoses in these cases are subungual hemorrhage or onychomycosis. In addition, foreign bodies, bacterial infections, traumatic injuries, or artificial discolorations of the nail unit may less frequently cause non-continuous nail alterations. Many systemic diseases that may also show involvement of the nails (e.g., psoriasis, atopic dermatitis, lichen planus, alopecia areata) tend to induce alterations in numerous if not all nails of the hands and feet. A similar extensive and generalized alteration of nails has been reported after treatment with a number of systemic drugs, especially antibiotics and cytostatics. Benign or malignant neoplasms that may also affect the nail unit include glomus tumor, Bowen’s disease, squamous cell carcinoma, and rare collision tumors. This review aims to assist clinicians in correctly evaluating and diagnosing nail disorders with the help of dermatoscopy. PMID:25396079

[Scabies of the nail unit in an infant].

PubMed

Finon, A; Desoubeaux, G; Nadal, M; Georgescou, G; Baran, R; Maruani, A

2017-05-01

There are no guidelines regarding the management of scabies in infants and recurrence is common at this age. We report the case of an infant with subungual hyperkeratosis and ungual lesions subsequent to classic scabies. A 7-month-girl, treated 6 weeks earlier with esdepallethrin for scabies, consulted for acquired lesions on 3 toe nails. These nails were thickened and displayed subungual hyperkeratosis. Physical examination of the skin, the finger nails and mucous membranes was otherwise normal. Fungal analyses were negative, but direct microscopic examination revealed numerous larvae of Sarcoptes scabiei as well as ovular debris. The child was treated with urea 40% to obtain chemical avulsion of the nails, and with topical esdepallethrin and a quarter tablet of ivermectin orally; there was no follow-up of the child. Ungual scabies has already been reported in crusted scabies and very rarely in classic scabies. Subungual and ungual locations of S. scabiei may constitute a source of reinfestation with scabies in infants. Treatment is not well defined and currently involves chemical avulsion of the nails and the application of topical antiscabies treatment. Copyright © 2016. Published by Elsevier Masson SAS.

Intramedullary fixation of forearm fractures with new locked nail.

PubMed

Bansal, Himanshu

2011-09-01

Lack of availability of interlocked nails made plate osteosynthesis the first choice of treatment of forearm fractures inspite of more surgical exposure, periosteal stripping and big skin incision subsequent scar along with higher risk of refracture on implant removal. We hereby report the first 12 cases with 19 forearm bone fractures internally fixed by indegenous interlocked nail. Existing square nails were modified to have a broad proximal end of 5.5 mm with a hole for locking screw of 2.5 mm. The nail has a distal hole of 1/1.2/1.5 mm in 2.5/3/3.5 mm diameter nail, respectively. A new method of distal locking with a clip made of k wire is designed. The clip after insertion into the bone and hole in nail and opposite cortex snuggly fits the bone providing a secure locking system. Twelve skeletally mature patients, mean age 32 years (range 24-45 years) with 19 diaphyseal fractures of the forearm were treated with this indigenously made new nail. The patient were evaluated for fracture union, functional recovery and complications. The functional outcome was assessed by disabilities of arm, shoulder and hand questionnaire (DASH score). Time to radiographic union ranged between 12 and 28 weeks, with a 100% union rate. Complications were minimal, with mild infection in open fracture (n=1) and delayed union (n=1) in patient with comminuted fracture of the ulna only. The clinical results were excellent. The DASH score ranged between 0 and 36 points. This new interlocking nail may be considered as an alternative to plate osteosynthesis for fractures of the forearm in adults. The advantages are benefit of closed reduction, smaller residual scar, reduced cost and early union with allowance of immediate movements.

Tibiotalocalcaneal Arthrodesis Using a Nitinol Intramedullary Hindfoot Nail.

PubMed

Hsu, Andrew R; Ellington, J Kent; Adams, Samuel B

2015-10-01

Tibiotalocalcaneal (TTC) arthrodesis using an intramedullary hindfoot nail is a common procedure for deformity correction and the treatment of combined tibiotalar and subtalar end-stage arthritis. Nonunion at one or both fusion sites is a difficult complication that can result in reoperation, significant morbidity, and below-knee amputation. There is currently a need for sustained compression across fusion sites using a TTC hindfoot nail with good mechanical stability. The DynaNail TTC Fusion System (MedShape, Inc, Atlanta, GA) uses an internal nitinol compression element to apply sustained compression across the tibiotalar and subtalar joints after surgery. In preliminary clinical cases, we have found that the nail is safe, reliable, and has promising clinical and radiographic results in settings of hindfoot arthritis, complex deformity, Charcot arthropathy, and talar avascular necrosis. Expert opinion, Level V. © 2015 The Author(s).

Coexistence of nail lichen planus and lichen planus pigmentosus.

PubMed

Lemes, Luciana Rodino; Verde, Renata Brandão Villa; Durães, Sandra Maria Barbosa; Araripe, Adolpho de Alencar; Pantaleão, Luciana

2016-01-01

We describe a fifty-six-year old, Afro-descendent female patient showing dystrophy of her twenty nails and hyperchromic, asymptomatic macule on her face. Histopathological examination of the macule showed vacuolization of the basal layer, melanophages in the superficial dermis and lymphoplasmocytic inflammatory infiltrate. Nail biopsy revealed orthokeratotic hyperkeratosis and lichenoid inflammatory infiltrate. Lichen planus pigmentosus is an uncommon variety of lichen planus. It is characterized by typical hyperpigmented macules on the face and neck. Nail changes might be present in 10% of lichen planus cases, but no associations with lichen planus pigmentosus have been described. We report a case of lichen planus in twenty nails associated with lichen planus pigmentosus on the patient's face.

DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

PubMed

Ricker, Charité N; Hanna, Diana L; Peng, Cheng; Nguyen, Nathalie T; Stern, Mariana C; Schmit, Stephanie L; Idos, Greg E; Patel, Ravi; Tsai, Steven; Ramirez, Veronica; Lin, Sonia; Shamasunadara, Vinay; Barzi, Afsaneh; Lenz, Heinz-Josef; Figueiredo, Jane C

2017-10-01

The landscape of hereditary syndromes and clinicopathologic characteristics among US Latino/Hispanic individuals with colorectal cancer (CRC) remains poorly understood. A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Information regarding CRC risk factors was elicited through interviews, and treatment and survival data were abstracted from clinical charts. Tumor studies and germline genetic testing results were collected from medical records or performed using standard molecular methods. The mean age of the patients at the time of diagnosis was 53.7 years (standard deviation, 10.3 years), and 48.3% were female. Overall, 21.2% of patients reported a first-degree or second-degree relative with CRC; 3.4% met Amsterdam I/II criteria. With respect to Bethesda guidelines, 38.5% of patients met at least 1 criterion. Of the 161 individuals who had immunohistochemistry and/or microsatellite instability testing performed, 21 (13.0%) had mismatch repair (MMR)-deficient (dMMR) tumors. dMMR tumors were associated with female sex (61.9%), earlier age at the time of diagnosis (50.4 ± 12.4 years), proximal location (61.9%), and first-degree (23.8%) or second-degree (9.5%) family history of CRC. Among individuals with dMMR tumors, 13 (61.9%) had a germline MMR mutation (MutL homolog 1 [MLH1] in 6 patients; MutS homolog 2 [MSH2] in 4 patients; MutS homolog 6 [MHS6] in 2 patients; and PMS1 homolog 2, mismatch repair system component [PMS2] in 1 patient). The authors identified 2 additional MLH1 mutation carriers by genetic testing who had not received immunohistochemistry/microsatellite instability testing. In total, 5.7% of the entire cohort were confirmed to have Lynch syndrome. In addition, 6 individuals (2.3%) had a polyposis phenotype. The percentage of dMMR tumors noted among Latino individuals (13%) is similar to estimates in non-Hispanic white individuals. In the current study, the majority of

Size and Charge Dependence of Ion Transport in Human Nail Plate

PubMed Central

Baswan, Sudhir M.; Li, S. Kevin; LaCount, Terri D.; Kasting, Gerald B.

2016-01-01

The electrical properties of human nail plate are poorly characterized, yet are a key determinate of the potential to treat nail diseases such as onychomycosis using iontophoresis. In order to address this deficiency, molar conductivities of 17 electrolytes comprising 12 ionic species were determined in hydrated human nail plate in vitro. Cation transport numbers across the nail for 11 of these electrolytes were determined by the electromotive force method. Effective ionic mobilities and diffusivities at infinite dilution for all ionic species were determined by regression analysis. The ratios of diffusivities in nail to those in solution were found to correlate inversely with the hydrodynamic radii of the ions according to a power law relationship having an exponent of −1.75 ± 0.27, a substantially steeper size dependence than observed for similar experiments in skin. Effective diffusivities of cations in nail were three-fold higher than those of comparably sized anions. These results reflect the strong size and charge selectivity of the nail plate for ionic conduction and diffusion. The analysis implies that efficient transungual iontophoretic delivery of ionized drugs having radii upwards of 5 Å (approximately MW ≥ 340 Da) will require chemical or mechanical alteration of the nail plate. PMID:26886342

Size and Charge Dependence of Ion Transport in Human Nail Plate.

PubMed

Baswan, Sudhir M; Li, S Kevin; LaCount, Terri D; Kasting, Gerald B

2016-03-01

The electrical properties of human nail plate are poorly characterized yet are a key determinate of the potential to treat nail diseases, such as onychomycosis, using iontophoresis. To address this deficiency, molar conductivities of 17 electrolytes comprising 12 ionic species were determined in hydrated human nail plate in vitro. Cation transport numbers across the nail for 11 of these electrolytes were determined by the electromotive force method. Effective ionic mobilities and diffusivities at infinite dilution for all ionic species were determined by regression analysis. The ratios of diffusivities in nail to those in solution were found to correlate inversely with the hydrodynamic radii of the ions according to a power law relationship having an exponent of -1.75 ± 0.27, a substantially steeper size dependence than observed for similar experiments in skin. Effective diffusivities of cations in nail were 3-fold higher than those of comparably sized anions. These results reflect the strong size and charge selectivity of the nail plate for ionic conduction and diffusion. The analysis implies that efficient transungual iontophoretic delivery of ionized drugs having radii upward of 5 Å (molecular weight, ca. ≥ 340 Da) will require chemical or mechanical alteration of the nail plate. Copyright © 2016 American Pharmacists Association®. Published by Elsevier Inc. All rights reserved.

Use of flexible facing for soil nail walls.

DOT National Transportation Integrated Search

2011-11-01

Soil nail walls are a widely used technology for retaining vertical and nearly vertical cuts in soil. A : significant portion of the cost of soil nail wall construction is related to the construction of a reinforced : concrete face. The potential for...

Association of Amelogenesis Imperfecta and Bartter's Syndrome.

PubMed

Kumar, A C V; Alekya, V; Krishna, M S V V; Alekya, K; Aruna, M; Reddy, M H K; Sangeetha, B; Ram, R; Kumar, V S

2017-01-01

Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.

Sex estimation from the patella in an African American population.

PubMed

Peckmann, Tanya R; Fisher, Brooke

2018-02-01

The skull and pelvis have been used for the estimation of sex for unknown human remains. However, in forensic cases where skeletal remains often exhibit postmortem damage and taphonomic changes the patella may be used for the estimation of sex as it is a preservationally favoured bone. The goal of the present research was to derive discriminant function equations from the patella for estimation of sex from an historic African American population. Six parameters were measured on 200 individuals (100 males and 100 females), ranging in age from 20 to 80 years old, from the Robert J. Terry Anatomical Skeleton Collection. The statistical analyses showed that all variables were sexually dimorphic. Discriminant function score equations were generated for use in sex estimation. The overall accuracy of sex classification ranged from 80.0% to 85.0% for the direct method and 80.0%-84.5% for the stepwise method. Overall, when the Spanish and Black South African discriminant functions were applied to the African American population they showed low accuracy rates for sexing the African American sample. However, when the White South African discriminant functions were applied to the African American sample they displayed high accuracy rates for sexing the African American population. The patella was shown to be accurate for sex estimation in the historic African American population. Copyright © 2017 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Withdrawal Strength and Bending Yield Strength of Stainless Steel Nails

Treesearch

Douglas R. Rammer; Samuel L. Zelinka

2015-01-01

It has been well established that stainless steel nails have superior corrosion performance compared to carbon steel or galvanized nails in treated wood; however, their mechanical fastening behavior is unknown. In this paper, the performance of stainless steel nails is examined with respect to two important properties used in wood connection design: withdrawal strength...

TOXIC TRACE METALS IN MAMMALIAN HAIR AND NAILS

EPA Science Inventory

Data have been compiled from the available world literature on the accumulation and bioconcentration of selected toxic trace metals in human hair and nails and other mammalian hair, fur, nails, claws, and hoofs. The toxic trace metals and metalloids include antimony, arsenic, bor...

Patellar Shape-Memory Fixator for the Treatment of Comminuted Fractures of the Inferior Pole of the Patella

NASA Astrophysics Data System (ADS)

Liu, Xin-Wei; Shang, Hui-Juan; Xu, Shuo-Gui; Wang, Zhi-Wei; Zhang, Chun-Cai; Fu, Qing-Ge

2011-07-01

Comminuted and displaced fractures of the inferior pole of the patella are not easy to reduce and it is difficult to fix the fragments soundly enough to allow early movement of the knee. The purpose of this study is to evaluate the clinical effectiveness of the internal fixation technique with Patellar Shape-Memory Fixator (PSMF) in acute comminuted fractures of the inferior pole of the patella. We retrospectively studied 25 patients with comminuted fractures of the inferior pole of the patella who were treated with PSMF and followed up for a mean period of 26 months (14 to 60). All the fractures healed at a mean of 6 weeks (5 to 7). The mean grading at the final follow-up was 29.5 points (27 to 30) using the Bostman score, with no observable restriction of movement. No breakage of the PSMF or infection occurred. No delayed union, nonunion, and infection were seen. This technique preserved the length of the patella, reduced the comminuted fragments of the inferior pole and avoided long-term immobilization of the knee.

Spontaneous patella fracture associated with anterior tibial tubercle pseudarthrosis in a revised knee replacement following knee Arthrodesis

PubMed Central

2013-01-01

Background Conversion of a knee arthrodesis to a Total Knee Arthroplasty is an uncommon procedure. Revision Total Knee Arthroplasty in this setting presents the surgeon with a number of challenges including the management of the extensor mechanism and patella. Case presentation We describe a unique case of a 69 years old Caucasian man who underwent a revision Total Knee Arthroplasty using a tibial tubercle osteotomy after a previous conversion of a knee arthrodesis without patella resurfacing. Unfortunately 9 months following surgery a tibial tubercle pseudarthrosis and spontaneous patella fracture occurred. Both were managed with open reduction and internal fixation. At 30 months follow-up the tibial tubercle osteotomy had completely consolidated while the patella fracture was still evident but with no signs of further displacement. The patient was completely satisfied with the outcome and had a painless range of knee flexion between 0-95°. Conclusions We believe that patients undergoing this type of surgery require careful counseling regarding the risk of complications both during and after surgery despite strong evidence supporting improved functional outcomes. PMID:24195600

(Meth)Acrylate Occupational Contact Dermatitis in Nail Salon Workers: A Case Series.

PubMed

DeKoven, Samuel; DeKoven, Joel; Holness, D Linn

Recently, many cases of acrylate-associated allergic contact dermatitis have appeared among nail salon workers. Common acrylate-containing products in nail salons include traditional nail polish, ultraviolet-cured shellac nail polish, ultraviolet-cured gel nails, and press-on acrylic nails. Nail salon technicians seen in the occupational medicine clinic in 2015 and 2016 were identified, and their patch test results and clinical features were summarized. Patch testing was done with the Chemotechnique (Meth)Acrylate nail series, and either the North American Standard series or the North American Contact Dermatitis Group screening series. Six patients were identified, all women, ages 38 to 58. Common presentations included erythematous dermatitis of the dorsa of the hands, palms, and forearms and fissures on the fingertips. Less common sites of eruptions included the periorbital region, cheeks, posterior ears, neck, sacral area, lateral thighs, and dorsa of the feet. All patients reacted to hydroxyethyl methacrylate, and 5 patients reacted to ethyl acrylate. Each patient also reacted to (meth)acrylates that are not found on either standard series, including ethyleneglycol dimethacrylate, 2-hydroxypropyl methacrylate, and 2-hydroxyethyl acrylate. The authors report 6 cases of allergic contact dermatitis to acrylates in nail technicians seen over the past year, representing a new trend in their clinic. These cases are reflective of a growing trend of nail technicians with allergic contact dermatitis associated with occupational (meth)acrylate exposure. Efforts to improve prevention are needed.

Research on the reasonable pile spacing of micro pile composite soil nailing

NASA Astrophysics Data System (ADS)

Liu, Jun yan; Liu, Yan; Song, Xiang hua

2017-08-01

Through the numerical simulation software FLAC3D, study on the synergetic effect of micro pile composite soil nailing will be studied. By adjusting the micro pile spacing and analysing the displacement field and stress field of soil, we can find that supporting effect of the soil nail hasn’t work yet when the micro pile spacing is 2D. The soil arching between piles has been formed in the pile spacing 4D ∼ 6D. The composite effect of micro pile and soil nailing will be the best and the soil arch behind piles will be firstly formed in 6D, the horizontal saddle soil arch will be formed between the nails. The nail head coincidence pressure area and micro pile pressure area are overlapping to maintain stability in the soil between piles. When the micro pile spacing is 9D, the arch behind piles will be failure, the soil flows around, but the saddle arch between the nails into circular arch, the supporting effect of the soil nailing is enhanced. When the micro pile spacing is 12D, the arch of the nails becomes smaller, sliding surface appears primitively. Based on the conclusions above, it is suggested that the micro pile spacing between 2D ∼ 6D is suitable for the micro pile and soil nailing composite support. The conclusion can provide theoretical basis for the design and construction of micro pile composite soil nailing.

Waardenburg syndrome in four Mexican patients.

PubMed

Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

2009-01-01

Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

Sensory factors affecting female consumers' acceptability of nail polish.

PubMed

Sun, C; Koppel, K; Adhikari, K

2015-12-01

The objectives of this study were to determine what sensory factors impact consumers' acceptability of nail polishes, to explore how these sensory factors impact consumers' acceptability of nail polishes, to investigate whether there are any consumer segments according to their overall acceptability on different nail polishes and to scrutinize how the consumer segments are related to the sensory factors. Ninety-eight females participated in a nail polish consumer study at Kansas State University. Eight commercial products belonging to four categories - regular (REG), gel (GEL), flake (FLK) and water-based (WAT) - were evaluated. Each nail polish sample was evaluated twice by each participant in two different tasks - a task devoted to applying and evaluating the product and a task devoted to observing the appearance and evaluating the product. Pearson's correlation analysis, analysis of variance (ANOVA), external preference mapping, cluster analysis and internal preference mapping were applied for data analysis. Participants' scores of overall liking of the nail polishes were similar in the application task and in the observation task. In general, participants liked the REG and GEL product samples more than the FLK and WAT samples. Among all the sensory attributes, appearance attributes were the major factors that affected participants' overall liking. Aroma seemed to be a minor factor to participants' overall liking. Some sensory attributes, such as runny, shininess, opacity, spreadability, smoothness, coverage and wet appearance, were found to drive participants' overall acceptability positively, whereas others such as pinhole, fatty-edges, blister, brushlines, pearl-like, flake-protrusion, glittery and initial-drag impacted participants' overall acceptability negatively. Four clusters of participants were identified according to their overall liking scores from both the application task and the observation task. Participants' acceptability, based on different

Skin or nail culture

MedlinePlus

Mucosal culture; Culture - skin; Culture - mucosal; Nail culture; Culture - fingernail; Fingernail culture ... There, it is placed in a special dish (culture). It is then watched to see if bacteria, ...

Correlation of 3D Shift and 3D Tilt of the Patella in Patients With Recurrent Dislocation of the Patella and Healthy Volunteers: An In Vivo Analysis Based on 3-Dimensional Computer Models.

PubMed

Yamada, Yuzo; Toritsuka, Yukiyoshi; Nakamura, Norimasa; Horibe, Shuji; Sugamoto, Kazuomi; Yoshikawa, Hideki; Shino, Konsei

2017-11-01

The concepts of lateral deviation and lateral inclination of the patella, characterized as shift and tilt, have been applied in combination to evaluate patellar malalignment in patients with patellar dislocation. It is not reasonable, however, to describe the 3-dimensional (3D) positional relation between the patella and the femur according to measurements made on 2-dimensional (2D) images. The current study sought to clarify the relation between lateral deviation and inclination of the patella in patients with recurrent dislocation of the patella (RDP) by redefining them via 3D computer models as 3D shift and 3D tilt. Descriptive laboratory study. Altogether, 60 knees from 56 patients with RDP and 15 knees from 10 healthy volunteers were evaluated. 3D shift and tilt of the patella were analyzed with 3D computer models created by magnetic resonance imaging scans obtained at 10° intervals of knee flexion (0°-50°). 3D shift was defined as the spatial distance between the patellar reference point and the midsagittal plane of the femur; it is expressed as a percentage of the interepicondylar width. 3D tilt was defined as the spatial angle between the patellar reference plane and the transepicondylar axis. Correlations between the 2 parameters were assessed with the Pearson correlation coefficient. The patients' mean Pearson correlation coefficient was 0.895 ± 0.186 (range, -0.073 to 0.997; median, 0.965). In all, 56 knees (93%) had coefficients >0.7 (strong correlation); 1 knee (2%), >0.4 (moderate correlation); 2 knees (3%), >0.2 (weak correlation); and 1 knee (2%), <0.2 (no correlation). The mean correlation coefficient of the healthy volunteers was 0.645 ± 0.448 (range, -0.445 to 0.982; median, 0.834). A statistically significant difference was found in the distribution of the correlation coefficients between the patients and the healthy volunteers ( P = .0034). When distribution of the correlation coefficients obtained by the 3D analyses was compared with that

Comparative study of nail sampling techniques in onychomycosis.

PubMed

Shemer, Avner; Davidovici, Batya; Grunwald, Marcelo H; Trau, Henri; Amichai, Boaz

2009-07-01

Onychomycosis is a common problem. Obtaining accurate laboratory test results before treatment is important in clinical practice. The purpose of this study was to compare results of curettage and drilling techniques of nail sampling in the diagnosis of onychomycosis, and to establish the best technique and location of sampling. We evaluated 60 patients suffering from distal and lateral subungual onychomycosis and lateral subungual onychomycosis using curettage and vertical and horizontal drilling sampling techniques from three different sites of the infected nail. KOH examination and fungal culture were used for detection and identification of fungal infection. At each sample site, the horizontal drilling technique has a better culture sensitivity than curettage. Trichophyton rubrum was by far the most common pathogen detected by both techniques from all sampling sites. The drilling technique was found to be statistically better than curettage at each site of sampling, furthermore vertical drilling from the proximal part of the affected nail was found to be the best procedure for nail sampling. With each technique we found that the culture sensitivity improved as the location of the sample was more proximal. More types of pathogens were detected in samples taken by both methods from proximal parts of the affected nails.

Application of soil nails to the stability of mine waste slopes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tant, C.R.; Drumm, E.C.; Mauldon, M.

1996-12-31

The traditional soil nailed structure incorporates grouted or driven nails, and a wire mesh reinforced shotcrete facing to increase the stability of a slope or wall. This paper describes the construction and monitoring of a full-scale demonstration of nailing to stabilize coal mine spoil. The purpose of the investigation is to evaluate the performance of nailed slopes in mine spoil using methods proven for the stabilization of soil walls and slopes. The site in eastern Tennessee is a 12 meter high slope of dumped fill, composed of weathered shale chips, sandstone, and coal. The slope was formed by {open_quotes}pre-regulatory{close_quotes} contourmore » surface mining operations and served as a work bench during mining. The material varies in size from silt to boulders, and has a small amount of cohesion. Portions of the mine spoil slope have experienced slope instability and erosion which have hampered subsequent reclamation activities. Three different nail spacings and three different nail lengths were used in the design. The 12 meter high structure is instrumented to permit measurement of nail strain, and vertical inclinometer readings and survey measurements will be used for the detection of ground movement. The results of this study will aid in the development of design recommendations and construction guidelines for the application of soil nailing to stabilize mine spoil.« less

Attic Retrofits Using Nail-Base Insulated Panels

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mallay, David; Kochkin, Vladimir

This project developed and demonstrated a roof/attic energy retrofit solution using nail-base insulated panels for existing homes where traditional attic insulation approaches are not effective or feasible. Nail-base insulated panels (retrofit panels) consist of rigid foam insulation laminated to one face of a wood structural panel. The prefabricated panels are installed above the existing roof deck during a reroofing effort.

The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

PubMed

LeBoeuf, Nicole; Garg, Amit; Worobec, Sophie

2007-01-01

The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome is characterized by the presence of chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Almost all patients have skin or nail findings early in the course of the disease. Therefore, the dermatologist is in the unique position of being able to identify patients with this syndrome early in its course and to facilitate careful monitoring of potentially lethal complications.

Minimal effect of patella eversion on ligament balancing in cruciate-retaining total knee arthroplasty.

PubMed

Aunan, Eirik; Kibsgård, Thomas; Röhrl, Stephan M

2017-03-01

The effect of patellar eversion on ligament laxity measurements is still unclear. The purpose of this study was to investigate the influence of patellar eversion on medial and lateral ligament laxity measurements performed intra-operatively in total knee arthroplasty (TKA). A total of 49 knees (27 female) with mean age 70 years (42-83) and mean body mass index of 28.5 were operated consecutively with a cruciate-retaining prosthesis. Medial and lateral ligament laxity in extension and in 90° of flexion was measured with the spatula-method intra-operatively after implantation of the prosthetic components with the patella everted and thereafter with the patella repositioned. The corresponding changes in gap height and inclination were calculated. A statistically significant increase of 0.6 mm (p < 0.001) in ligament laxity (condylar lift-off) laterally in flexion was found with the patella repositioned compared to everted. No differences were found in extension or medially in flexion. Correspondingly, the flexion gap increased by 0.4 mm (p < 0.001) and the flexion gap inclination increased by 0.6° (p = 0.002) when the patella was repositioned. Earlier research has shown that ligament laxity must be at least 1-2 mm to cause inferior function after TKA. In the current study, we found that the effect of patellar eversion on ligament laxity measurements is too small to be considered clinically relevant. PROSPECTIVE STUDY EVALUATING THE EFFECT OF PATIENT CHARACTERISTICS: Level II.

Biomechanical investigation of titanium elastic nail prebending for treating diaphyseal long bone fractures.

PubMed

Chen, Yen-Nien; Lee, Pei-Yuan; Chang, Chih-Wei; Ho, Yi-Hung; Peng, Yao-Te; Chang, Chih-Han; Li, Chun-Ting

2017-03-01

This study numerically investigated the deformation of titanium elastic nails prebent at various degrees during implantation into the intramedullary canal of fractured bones and the mechanism by which this prebending influenced the stability of the fractured bone. Three degrees of prebending the implanted portions of the nails were used: equal to, two times, and three times the diameter of the intramedullary canal. Furthermore, a simulated diaphyseal fracture with a 5-mm gap was created in the middle shaft portion of the bone fixed with two elastic nails in a double C-type configuration. End caps were simulated using a constraint equation. To confirm that the simulation process is able to present the mechanical response of the nail inside the intramedullary, an experiment was conducted by using sawbone for validation. The results indicated that increasing the degrees of nail prebending facilitated straightening the nails against the inner aspect of canal after implantation, with increase in stability under torsion. Furthermore, reducing nail prebending caused a larger portion of the nails to move closer to the loading site and center of bone after implantation; the use of end caps prevented the nail tips from collapsing and increased axial stability. End cap use was critical for preventing the nail tips from collapsing and for increasing the stability of the nails prebent at a degree equal to the diameter of the canal with insufficient frictional force between the nail and canal. Therefore, titanium elastic nail prebending in a double C-type configuration with a degree three times the diameter of the canal represents a superior solution for treating transverse fractures without a gap, whereas that with a degree equal to the diameter of the intramedullary canal and combined with end cap use represents an advanced solution for treating comminuted fractures in a diaphyseal long bone fracture.

77 FR 27080 - Certain Steel Nails From the United Arab Emirates

Federal Register 2010, 2011, 2012, 2013, 2014

2012-05-08

... INTERNATIONAL TRADE COMMISSION [Investigation No. 731-TA-1185 (Final)] Certain Steel Nails From... is materially injured by reason of imports from the United Arab Emirates of certain steel nails... of certain steel nails from the United Arab Emirates were being sold at LTFV within the meaning of...

[Obstructive sleep apnea syndrome in the setting of Gorlin-Goltz syndrome].

PubMed

Grundig, H; Sinikovic, B; Günther, J; Jungehülsing, M

2013-09-01

Goltz-Gorlin syndrome is a rare autosomal dominant hereditary disease associated with a high rate of spontaneous mutation. Diagnosis is based on clinically defined major and minor criteria. The disease is caused by a gene mutation locating to chromosome 9q22-31. We report on a young Goltz-Gorlin syndrome patient with obstructive sleep apnea syndrome. Due to intolerance to continuous positive airway pressure (CPAP) therapy and in order to avoid a tracheotomy, we opted for an alternative therapy comprising interdisciplinary multi-level surgery.

The Diagnostic Value of the Clarke Sign in Assessing Chondromalacia Patella

PubMed Central

Doberstein, Scott T; Romeyn, Richard L; Reineke, David M

2008-01-01

Context: Various techniques have been described for assessing conditions that cause pain at the patellofemoral (PF) joint. The Clarke sign is one such test, but the diagnostic value of this test in assessing chondromalacia patella is unknown. Objective: To (1) investigate the diagnostic value of the Clarke sign in assessing the presence of chondromalacia patella using arthroscopic examination of the PF joint as the “gold standard,” and (2) provide a historical perspective of the Clarke sign as a clinical diagnostic test. Design: Validation study. Setting: All patients of one of the investigators who had knee pain or injuries unrelated to the patellofemoral joint and were scheduled for arthroscopic surgery were recruited for this study. Patients or Other Participants: A total of 106 otherwise healthy individuals with no history of patellofemoral pain or dysfunction volunteered. Main Outcome Measure(s): The Clarke sign was performed on the surgical knee by a single investigator in the clinic before surgery. A positive test was indicated by the presence of pain sufficient to prevent the patient from maintaining a quadriceps muscle contraction against manual resistance for longer than 2 seconds. The preoperative result was compared with visual evidence of chondromalacia patella during arthroscopy. Results: Sensitivity was 0.39, specificity was 0.67, likelihood ratio for a positive test was 1.18, likelihood ratio for a negative test was 0.91, positive predictive value was 0.25, and negative predictive value was 0.80. Conclusions: Diagnostic validity values for the use of the Clarke sign in assessing chondromalacia patella were unsatisfactory, supporting suggestions that it has poor diagnostic value as a clinical examination technique. Additionally, an extensive search of the available literature for the Clarke sign reveals multiple problems with the test, causing significant confusion for clinicians. Therefore, the use of the Clarke sign as a routine part of a knee

Management of Nail Bed Injuries Associated with Fingertip Injuries.

PubMed

George, Alexander; Alexander, Reena; Manju, C

2017-01-01

Management of nail injuries can often be a challenging experience, especially in presence of complex fingertips' injuries that include soft tissue loss and distal phalanx injury. Most studies found in the literature focus on individual injuries and describe methods to tackle those injuries, notwithstanding the fact that the nail, nailbed, distal phalanx, soft tissue and skin of the finger tip form a complex and often more than one element of this complex is injured. This retrospective study therefore focuses on the management of nail bed injuries as a part of the complex finger tip injury and outlines the surgical principles and techniques that were used in their management. Two hundred and forty patients from a tertiary care center in different clinical settings where a wide variety of cases involving the nail bed injuries were included in this study. Patients comprised of 192 (80%) males and 48 (20%) females with the average male age of 37.3 years (range 1-66 years) and average female age of 29 years (range 1-59 years). 210 patients had single finger involment, 30 patients had two finger involvement (total fingers involved- 270). The middle finger was most commonly involved while the index finger was the second most commonest finger involved. In 198 (89.18%) patients local anaesthesia was used while in the rest: regional blocks [ n = 10 (4.5%)] and general anaesthesia [ n = 14 (6.3%)] were used. In this retrospective study, out of the total of two hundred and forty patients, 222 (92.5%) patients underwent surgery, while the rest 18 (7.5%) were treated conservatively. Two hundred and ten patients who underwent surgery had complete healing over the course of treatment and followup, while four patients needed secondary interventional. Eight patients who had surgery were migrant workers were lost to follow up after surgery. Eight patients had postoperative complications that included infection, secondary necrosis, wound breakdown and non healing fractures. Accurate

Nail gun injuries in residential carpentry: lessons from active injury surveillance.

PubMed

Lipscomb, H J; Dement, J M; Nolan, J; Patterson, D; Li, L

2003-03-01

To describe circumstances surrounding injuries involving nail guns among carpenters, calculate injury rates, identify high risk groups and preventive measures. and setting: Active injury surveillance was used to identify causes of injury among a large cohort of union residential and drywall carpenters. Injured carpenters were interviewed by experienced journeymen; enumeration of workers and hourworked were provided by the union. The combined data allowed definition of a cohort of carpenters, their hours worked, detailed information on the circumstances surrounding injuries, and identification of preventive measures from the perspectives of the injured worker and an experienced investigator. Nail guns were involved in 14% of injuries investigated. Ninety percent of these injuries were the result of the carpenter being struck, most commonly by a nail puncturing a hand or fingers. The injury rate among apprentices was 3.7 per 200 000 hours worked (95% confidence interval (CI) 2.7 to 4.9) compared with a rate of 1.2 among journeymen (95% CI 0.80 to 1.7). While not always the sole contributing factor, a sequential trigger would have likely prevented 65% of the injuries from tools with contact trip triggers. Training, engineering, and policy changes in the workplace and manufacturing arena are all appropriate targets for prevention of these injuries. Use of sequential triggers would likely decrease acute injury rates markedly. Over 70% of injuries among residential carpenters were associated with through nailing tasks (such as nailing studs or blocks, trusses or joists) or toe nailing (angled, corner nailing) as opposed to flat nailing used for sheathing activities; this provides some indication that contact trip tools could be used solely for flat nailing.

Nail gun injuries in residential carpentry: lessons from active injury surveillance

PubMed Central

Lipscomb, H; Dement, J; Nolan, J; Patterson, D; Li, L

2003-01-01

Objective: To describe circumstances surrounding injuries involving nail guns among carpenters, calculate injury rates, identify high risk groups and preventive measures. Methods and setting: Active injury surveillance was used to identify causes of injury among a large cohort of union residential and drywall carpenters. Injured carpenters were interviewed by experienced journeymen; enumeration of workers and hourworked were provided by the union. The combined data allowed definition of a cohort of carpenters, their hours worked, detailed information on the circumstances surrounding injuries, and identification of preventive measures from the perspectives of the injured worker and an experienced investigator. Results: Nail guns were involved in 14% of injuries investigated. Ninety percent of these injuries were the result of the carpenter being struck, most commonly by a nail puncturing a hand or fingers. The injury rate among apprentices was 3.7 per 200 000 hours worked (95% confidence interval (CI) 2.7 to 4.9) compared with a rate of 1.2 among journeymen (95% CI 0.80 to 1.7). While not always the sole contributing factor, a sequential trigger would have likely prevented 65% of the injuries from tools with contact trip triggers. Conclusions: Training, engineering, and policy changes in the workplace and manufacturing arena are all appropriate targets for prevention of these injuries. Use of sequential triggers would likely decrease acute injury rates markedly. Over 70% of injuries among residential carpenters were associated with through nailing tasks (such as nailing studs or blocks, trusses or joists) or toe nailing (angled, corner nailing) as opposed to flat nailing used for sheathing activities; this provides some indication that contact trip tools could be used solely for flat nailing. PMID:12642553

76 FR 29266 - Certain Steel Nails From the United Arab Emirates

Federal Register 2010, 2011, 2012, 2013, 2014

2011-05-20

... INTERNATIONAL TRADE COMMISSION [Investigation No. 731-TA-1185 Preliminary] Certain Steel Nails... Emirates of certain steel nails, provided for in subheadings 7317.00.55, 7317.00.65 and 7317.00.75 of the... threatened with material injury by reason of LTFV imports of certain steel nails from the United Arab...

Comparative study between biologic plating and intramedullary nailing for the treatment of subtrochanteric fractures: Is biologic plating using LCP-DF superior to intramedullary nailing?

PubMed

Shin, Won Chul; Moon, Nam Hoon; Jang, Jae Hoon; Lee, Hee Jin; Suh, Kuen Tak

2017-10-01

The objective of this study is to evaluate the outcome measures of subtrochanteric fractures between biologic plating and intramedullary nailing and determine if biologic plating is superior to intramedullary nailing. Between March 2009 and December 2015, 81 patients with subtrochanteric fractures were enrolled (52 males and 29 females; 31 treated with biologic plating and 50 with intramedullary nailing). Biologic plating was conducted consecutively between May 2011 and March 2013 and intramedullary nailing was performed for the rest of period. Perioperative outcomes including operation time and blood loss during the operation; postoperative radiologic outcomes including union, time to union, coronal alignment, and shortening of the femur; and clinical outcomes including walking ability and pain were evaluated. The biologic plating group was compared with the intramedullary nailing group as a historical control. No significant differences were identified for bony union and time to union between the two different fixation methods Coronal alignment was significantly better in the biologic plating group than in the intramedullary nailing group (p<0.016). Postoperative coronal alignment was the only risk factor associated with the nonunion of subtrochanteric fractures (unadjusted OR: 1.915, 95% CI: 0.190 - 19.273; adjusted OR: 0.042, 95% CI: 0.000 - 21.517; p=0.320). Surgical outcomes using LCP-DF are comparable to those using intramedullary nailing. Further clinical studies with a larger sample size are required to show the advantage of biologic plating for the treatment of subtrochanteric fractures. Copyright © 2017 Elsevier Ltd. All rights reserved.

Brown Nail-bed Arcs and Chronic Renal Disease

PubMed Central

Stewart, W. K.; Raffle, E. J.

1972-01-01

A brown arc affecting the distal part of the fingernail-bed, just proximal to the point of separation of the nail from its bed, has been found in 12 out of 34 patients with chronic renal disease (35%) compared with an incidence of less than 2% in a series of unselected patients. It represents a distinctive form of pigmentation, possibly due to lipochromes. No decisive association could be found between the presence or absence of the pigmented nail arc and the level of impaired renal function. Nevertheless it seems that renal disease predisposes towards the development of brown nail arcs. Imagesp786-a PMID:5014252

No difference in clinical outcome between patella eversion and lateral retraction in total knee arthroplasty: a systemic review and meta-analysis.

PubMed

Zan, Pengfei; Sun, Wei; Yang, Yong; Cai, Xinyu; Ma, Xiaojun; Li, Guodong

2015-06-01

Surgical exposure during total knee arthroplasty (TKA) requires mobilization technique of the patella. Proponents of minimally invasive TKA claim that lateral retraction, rather than eversion, of the patella may be beneficial. Many randomized controlled studies attempt to identify this issue; however, no final conclusion arrives. With this systemic review and meta-analysis, we intended to test whether patella eversion during TKA had deleterious effects. A comprehensive literature search was performed in PubMed, MEDLINE, EMBASE and other internet database. We retrieved all the relevant studies designed to interpret this issue. The searching time frame was from the establishing of these databases until July 2014. Six randomized controlled trials assessing a total of 414 patients and 451 knees were included. The duration of surgery was much shorter (p = 0.003), and the length of skin incision was much longer (p < 0.00001). No significant difference was found on other measurements, including length of hospital stay, quadriceps strength, complications, straight leg raise, Visual Analogue Scale score and functional scores. Patella eversion could decrease the duration of the surgery; nevertheless, the length of skin incision was longer; no significant difference was found on other measurements, especially the quadriceps strength and complications which were concerned. Patella eversion and patella lateral retraction could achieve similar clinical outcomes. Systematic review and meta-analysis, Level I.

Finite Element Analysis of Absorbable Sheath to Prevent Stress Shielding of Tibial Interlocking Intramedullary Nail

NASA Astrophysics Data System (ADS)

Dong, Yansheng; Wang, Yongqing; Dong, Limin; Jia, Peng; Lu, Fengcheng

2017-07-01

The nail with absorbable sheath (AS nail) is designed to reduce the stress shielding effect of internal fixation with interlocking intramedullary nail. In order to verify its feasibility, two types of the finite element models of internal fixation of tibia with the AS nail and the common metal nail (CM nail) are established using the Softwares of Mimics, Geomagic, SolidWorks and ANSYS according to the CT scanning data of tibia. The result of the finite element analysis shows that the AS nail has great advantages compared with the CM nail in reducing the stress shielding effect in different periods of fracture healing. The conclusion is that the AS nail can realize the static fixation to the dynamic fixation from the early to the later automatically to shorten the time of fracture healing, which also provides a new technique to the interlocking intramedullary nail.

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

PubMed

Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud

2017-11-01

CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations. © 2017 Wiley Periodicals, Inc.

Application of Soil Nailing Technique for Protection and Preservation Historical Buildings

NASA Astrophysics Data System (ADS)

Kulczykowski, Marek; Przewłócki, Jarosław; Konarzewska, Bogusława

2017-10-01

Soil nailing is one of the recent in situ techniques used for soil improvement and in stabilizing slopes. The process of soil nailing consists of reinforcing the natural ground with relatively small steel bars or metal rods, grouted in the pre-drilled holes. This method has a wide range of applications for stabilizing deep excavations and steep slopes. Soil nailing has recently become a very common method of slope stabilisation especially where situated beneath or adjacent to historical buildings. Stabilisation by nails drilled into existing masonry structures such as failing retaining walls abutments, provide long term stability without demolition and rebuilding costs. Two cases of soil nailing technology aimed at stabilising slopes beneath old buildings in Poland are presented in this paper. The first concerns application of this technology to repair a retaining wall supporting the base of the dam at the historic hydroelectric power plant in Rutki. The second regards a concept of improving the slope of the Castle Hill in Sandomierz. An analysis of the slope stability for the latter case, using stabilisation technique with the piling system and soil nailing was performed. Some advantages of soil nailing especially for protection of historical buildings, are also underlined. And, the main results of an economic comparison analysis are additionally presented.

[Hereditary cerebro-oculo-renal syndromes].

PubMed

Sessa, Galina; Hjortshøj, Tina Duelund; Egfjord, Martin

2014-02-17

Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

[Surgical treatment of inferior pole comminuted fractures of patella with new type tension band].

PubMed

Sun, B; Zhang, Z S; Zhou, F; Tian, Y; Ji, H Q; Guo, Y; Lv, Y; Yang, Z W

2015-04-18

To study the effectiveness of inferior pole fracture of patella treating by the new tension band. From Dec. 2011 to Dec. 2013, 21 patients with inferior pole fracture of patella were treated with the new tension band which consisted of cannulated screw, titanium cable and shims. There were 21 patients[10 males, 11 females, the average age was 54 years(21 to 79)],of whom,all were "fell on knees". The average operation time was 89 min (57-197 min),the follow-up visits were done from 7-31 months (average 18 months), the bone healing time was from 8-12 weeks (average 10.5 weeks). The post operation assessment was done by Bostman score, from 20-30 (average 27),10 excellent,and 11 good. No complication occurred. The new tension band is the effective treatment for inferior pole fracture of patella. The internal fixation is reliable, it is simple to operate, and patients can take exercises as early as possible. Therefore, the new tension band has a better clinical value.

Nail haemorrhages in native highlanders of the Peruvian Andes

PubMed Central

Heath, Donald; Harris, Peter; Williams, David; Krüger, Hever

1981-01-01

Nail haemorrhages are of interest to the chest physician and cardiologist. While the common type in the distal part of the nail is produced by the minor trauma of daily life, the rarer form—scattered through the nail substance—appears to be related to hypoxaemia brought about by heart and lung disease. We thought it would be of interest to study a population which was naturally hypoxaemic because of living at high altitude. Accordingly we have studied the frequency and types of nail haemorrhage in Quechua Indians who are permanently exposed to the hypobaric hypoxia of the Andes. We found the haemorrhages to be common both in mestizos living on the coastal plain and in the native highlanders. They appeared to increase in frequency with altitude but were of the distal type and would thus seem to be the result of minor trauma as at sea level. However, just as in cases of cyanotic congenital heart disease at low altitude, those with exaggerated hypoxaemia and pronounced elevation of haematocrit—namely, subjects with Monge's disease (chronic mountain sickness)—had scattered haemorrhages in the nail substance. Images

Hereditary hemochromatosis.

PubMed

Walker, E M; Wolfe, M D; Norton, M L; Walker, S M; Jones, M M

1998-01-01

Genetic (hereditary) hemochromatosis is probably the most common autosomal recessive disorder found in white Americans, of whom about 5/1,000 (0.5 percent) are homozygous for the associated gene. The hemochromatosis gene is probably located close to the HLA-A locus on the short arm of chromosome 6. Homozygous individuals may develop severe and potentially lethal hemochromatosis, especially after age 39. Hereditary hemochromatosis involves an increased rate of iron absorption from the gut with subsequent progressive storage of iron in soft organs of the body. Excess iron storage eventually produces pituitary, pancreatic, cardiac, and liver dysfunction and death may result from cardiac arrhythmias, congestive heart failure, and/or hepatic failure or cancer. Early diagnosis can prevent these excess iron-induced problems. Iron overload owing to HLA-linked hereditary hemochromatosis can be distinguished from other causes of hemochromatosis by liver biopsies and interpretations. Patients at risk for genetic hemochromatosis should be screened, identified, and treated as early as age 20 to prevent or minimize the deadly complications of hemochromatosis. Population screening should include measurements of serum iron concentration, total iron binding capacity (TIBC), percent saturation of transferrin, and serum ferritin concentrations. Family members of hereditary hemochromatosis patients are at increased risk and should be tested. Screening, identification and early treatment (phlebotomies, sometimes in combination with the use of Desferal or other iron-chelating agents) may help prevent or reduce iron-related organ damage and premature deaths. Early diagnosis and treatment will reduce the population of aging individuals with severe, complicated hemochromatosis and dramatically reduce medical costs (billions of U.S. dollars per annum) associated with the management of this disease.

Effects of nail polish on microbial growth of fingernails. Dispelling sacred cows.

PubMed

Baumgardner, C A; Maragos, C S; Walz, J; Larson, E

1993-07-01

Nail polish worn on short, healthy nails does not appear to be associated with increased microbial counts on the fingernails. Additional studies to examine the effect of wearing nail polish on other aspects of hand hygiene may be warranted, however.

[A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient].

PubMed

Li, X Y; Jiang, Y; Xu, L J; Duan, L; Peng, X Y; Chen, L M; Xia, W B; Xing, X P

2017-10-01

Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ 1 gene mutations, c. 931C >T (p.R311W) and c. 445-446insCCTGAACAC (p.V149Afs, 150X), with the latter a novel mutation. Her father and mother were heterozygous carriers of c. 931C >T (p.R311W) and c. 445-446insCCTGAACAC (p.V149Afs, 150X), respectively. In conclusion, this case of BS type Ⅱ is caused by a novel compound heterozygous KCNJ 1 mutation. Further studies are needed to verify the effect of celecoxib in BS patients.

The short arm deletion syndrome of chromosome 4 (4p- syndrome).

PubMed

Zellweger, H; Bardach, J; Bordwell, J; Williams, K

1975-01-01

Partial deletion of the short arm of chromosome 4 (4p-) represents another (rare) cause of cleft lip and cleft palate. Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias. Life expectancy is often shortened. The 4p- syndrome has many features in common with another deletion syndrome, the cri-du-chat syndrome, and also with the Smith-Lemli-Opitz syndrome. The latter is a hereditary condition with normal karyotype. The cri-du-chat syndrome is characterized by a peculiar high-pitched, mewing cry and can be differentiated from the Wolf syndrome by the different staining characteristics (banding) of chromosomes 4 and 5.

Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome.

PubMed

Tanaka, Mari; Asada, Misako; Higashi, Atsuko Y; Nakamura, Jin; Oguchi, Akiko; Tomita, Mayumi; Yamada, Sachiko; Asada, Nariaki; Takase, Masayuki; Okuda, Tomohiko; Kawachi, Hiroshi; Economides, Aris N; Robertson, Elizabeth; Takahashi, Satoru; Sakurai, Takeshi; Goldschmeding, Roel; Muso, Eri; Fukatsu, Atsushi; Kita, Toru; Yanagita, Motoko

2010-03-01

The glomerular basement membrane (GBM) is a key component of the filtering unit in the kidney. Mutations involving any of the collagen IV genes (COL4A3, COL4A4, and COL4A5) affect GBM assembly and cause Alport syndrome, a progressive hereditary kidney disease with no definitive therapy. Previously, we have demonstrated that the bone morphogenetic protein (BMP) antagonist uterine sensitization-associated gene-1 (USAG-1) negatively regulates the renoprotective action of BMP-7 in a mouse model of tubular injury during acute renal failure. Here, we investigated the role of USAG-1 in renal function in Col4a3-/- mice, which model Alport syndrome. Ablation of Usag1 in Col4a3-/- mice led to substantial attenuation of disease progression, normalization of GBM ultrastructure, preservation of renal function, and extension of life span. Immunohistochemical analysis revealed that USAG-1 and BMP-7 colocalized in the macula densa in the distal tubules, lying in direct contact with glomerular mesangial cells. Furthermore, in cultured mesangial cells, BMP-7 attenuated and USAG-1 enhanced the expression of MMP-12, a protease that may contribute to GBM degradation. These data suggest that the pathogenetic role of USAG-1 in Col4a3-/- mice might involve crosstalk between kidney tubules and the glomerulus and that inhibition of USAG-1 may be a promising therapeutic approach for the treatment of Alport syndrome.

Fruit-induced FPIES masquerading as hereditary fructose intolerance.

PubMed

Fiocchi, Alessandro; Dionisi-Vici, Carlo; Cotugno, Giovanna; Koch, Pierluigi; Dahdah, Lamia

2014-08-01

Hereditary fructose intolerance (HFI) symptoms develop at first introduction of fruit during weaning. We report on an infant with suspected HFI who presented with repeated episodes of vomiting and hypotension after ingestion of fruit-containing meals. The first episode occurred at age 4 months. Despite negative genetic testing for HFI, strict avoidance of fruit ingestion resulted in lack of recurrence of symptoms. Oral-fructose-tolerance testing conducted with an apple mousse did not determine hypoglycemia or fructosuria but caused severe hypotension. Allergy evaluations were negative, and the history was diagnostic for fruit-induced food protein-induced enterocolitis syndrome. Because this non-immunoglobulin E-mediated gastrointestinal food hypersensitivity manifests as profuse, repetitive vomiting, often with diarrhea, leading to acute dehydration and lethargy, it may be misinterpreted as HFI. We advise pediatricians to consider food protein-induced enterocolitis syndrome in the differential diagnosis when there is a suspicion of HFI. Copyright © 2014 by the American Academy of Pediatrics.

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

PubMed Central

2009-01-01

In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ≥ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for Li-Fraumeni-like syndrome (122 families, 66.7%). The overall prevalence of a hereditary breast cancer phenotype was 6.2% (95%CI: 5.67-6.65). These findings identified a problem of significant magnitude in the region and indicate that genetic cancer risk evaluation should be undertaken in a considerable proportion of the women from this community. The large proportion of women who attended GCRA (72.3%) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers. PMID:21637504

The effect of retained intramedullary nails on tibial bone mineral density.

PubMed

Allen, J C; Lindsey, R W; Hipp, J A; Gugala, Z; Rianon, N; LeBlanc, A

2008-07-01

Intramedullary nailing has become a standard treatment for adult tibial shaft fractures. Retained intramedullary nails have been associated with stress shielding, although their long-term effect on decreasing tibial bone mineral density is currently unclear. The purpose of this study was to determine if retained tibial intramedullary nails decrease tibial mineral density in patients with successfully treated fractures. Patients treated with statically locked intramedullary nails for isolated, unilateral tibia shaft fractures were studied. Inclusion required that fracture had healed radiographically and that the patient returned to the pre-injury activity level. Data on patient demographic, fracture type, surgical technique, implant, and post-operative functional status were tabulated. Dual energy X-ray absorptiometry was used to measure bone mineral density in selected regions of the affected tibia and the contralateral intact tibia. Image reconstruction software was employed to ensure symmetry of the studied regions. Twenty patients (mean age 43; range 22-77 years) were studied at a mean of 29 months (range 5-60 months) following intramedullary nailing. There was statistically significant reduction of mean bone mineral density in tibiae with retained intramedullary nails (1.02 g/cm(2) versus 1.06 g/cm(2); P=0.04). A significantly greater decrease in bone mineral density was detected in the reamed versus non-reamed tibiae (-7% versus +6%, respectively; P<0.05). The present study demonstrates a small, but statistically significant overall bone mineral density decrease in healed tibiae with retained nails. Intramedullary reaming appears to be a factor potentiating the reduction of tibia bone mineral density in long-term nail retention.

Comparison of two intramedullary nails for tibiotalocalcaneal fusion: anatomic and radiographic considerations.

PubMed

Mückley, Thomas; Ullm, Sebastian; Petrovitch, Alexander; Klos, Kajetan; Beimel, Claudia; Fröber, Rosemarie; Hofmann, Gunther O

2007-05-01

Retrograde intramedullary nailing is an established procedure for tibiotalocalcaneal arthrodesis. This study was conducted to see whether, and if so to what extent, nail design modifications would influence the risk to anatomic structures and the bony coverage of the nail base. Six pairs of thawed fresh-frozen cadaver legs received two different intramedullary nails (N1: straight nail, lateral-medial tip locking; N2: valgus-curved nail, medial-lateral tip locking) under simulated operative conditions. The specimens were dissected; distances between the at-risk structures and the hardware were measured. The hindfoot axis and the volume of the intracalcaneal nail portion were determined with CT. At the plantar entry site, N2 was significantly farther from the flexor hallucis longus tendon (p=0.047), the medial plantar artery (p=0.026), and the lateral plantar nerve (p=0.026) than N1. The lateral-medial calcaneal locking screw of N1 damaged significantly more often the peroneus brevis tendon (p=0.03) than N2. The proximal tip-locking screw, N2, was significantly farther from the anterior tibial artery (p=0.075) and the deep (p=0.047) and superficial peroneal nerves (p=0.009) than N1; N1 was significantly farther from the great saphenous vein (p=0.075) than N2. The distal tip-locking screw, N1. damaged significantly more often the extensor digitorum longus (p=0.007), the anterior tibial artery(p = 0.04), and the deep and superficial peroneal nerves (p=0.03) than N2. CT did not show any significant changes in the hindfoot axis with either device; intracalcaneal nail volumes were similar. A curved nail can increase the distance to at-risk plantar structures. Medial-lateral nail-tip locking appears to have less risk to neurovascular structures. Safer retrograde intramedullary nailing for tibiotalocalcaneal fusion requires knowledge of the structures at risk and appropriate operative technique.

Distal tibial fractures and non-unions treated with shortened intramedullary nail.

PubMed

Megas, P; Zouboulis, P; Papadopoulos, A X; Karageorgos, A; Lambiris, E

2003-01-01

We reviewed 18 patients, 14 with acute fractures and four with non-union of the distal tibia, treated between 1990 and 2001 with a shortened, reamed intramedullary nail. The mean follow-up was 38 (8-144) months. The fractures united at an average of 16 (12-18) weeks and the non-unions at 20 (12-30) weeks. Two patients required nail dynamization. No limb shortening nor material failures were seen. All patients returned to normal daily activities. Although technically demanding, intramedullary nailing for distal tibial fractures and non-unions with a shortened nail represents a safe and reliable method.

Ectodermal Dysplasia: A Genetic Review

PubMed Central

Prashanth, S

2012-01-01

Abstract Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202. PMID:25206167

Ectodermal dysplasia: a genetic review.

PubMed

Deshmukh, Seema; Prashanth, S

2012-09-01

Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

The use of intramedullary nails in tibiotalocalcaneal arthrodesis.

PubMed

Thomas, Ruth L; Sathe, Vinayak; Habib, Syed I

2012-01-01

Tibiotalocalcaneal arthrodesis is a salvage procedure undertaken for hindfoot problems that affect both the ankle and subtalar joints (eg, two-joint arthritis, severe acute trauma, osteonecrosis of the talus, severe malalignment deformities, significant hindfoot bone loss). Methods of achieving fusion include Steinmann pins, screws, plates, external fixators, and retrograde intramedullary nailing. Retrograde intramedullary nailing provides a load-sharing fixation device with superior biomechanical properties and is an excellent choice for use in tibiotalocalcaneal arthrodesis. This technique can be performed through relatively small incisions. In addition, recent design modifications include the availability of dynamization and the choice of curved or straight nails. Contraindications to the technique include the presence of infection, severe vascular disease, and severe malalignment of the tibia.

Evaluating a county-based Healthy nail Salon Recognition Program

EPA Science Inventory

To determine whether nail solons that participate in the SF recognition program have reduced measured levels of toluene, methyl methacrylate (MMA), and total volatile organic compounds (TVOC)as compared to nail salons that do not participate. We also evaluated changes in worker ...

Avoiding Pitfalls of Tibiotalocalcaneal Nail Malposition With Internal Rotation Axial Heel View.

PubMed

Callahan, Ryan; Juliano, Paul; Aydogan, Umur; Clayton, Justin

2018-04-01

Tibiotalocalcaneal (TTC) nails are often used for complex hind foot arthrodesis and deformity correction. The natural valgus alignment of the hindfoot creates a challenge to optimum placement of the guidewire and eventual nail with a straight or valgus-curved nail. Five fresh frozen cadavers were used for placement of a TTC guidewire with standard anterior-posterior (AP), lateral, and Harris axial heel views as a reference for proper placement. The limb was then rotated 15°, 30°, and 45° both internally and externally to evaluate the perceived amount of osseous purchase within the calcaneus. The TTC nail was then inserted and dissection was performed to demonstrate proximity of the nail to the sustentaculum tali and neurovascular structures. A 30° internal rotation Harris axial heel view demonstrated the most accurate representation of osseous purchase within the calcaneus with the guidewire and nail placement. When the guidewire was placed with standard imaging the nail was often ultimately placed in close proximity to the sustentaculum tali and neurovascular structures. Careful placement of the guidewire prior to reaming and nail placement should be undertaken to avoid neurovascular injury and to increase osseous purchase. For optimal guidewire placement, the authors suggest using appropriate anatomic landmarks and using a 30° internally rotated Harris axial heel view to verify correct placement. Level V: Expert opinion.

The Hammer-and-Nail Phenomenon in Mathematics Education

ERIC Educational Resources Information Center

Lim, Kien H.

2012-01-01

This paper uses the hammer-and-nail metaphor to highlight the rigidity and impulsiveness that can be found in student mathematical behaviour. The hammer-and-nail phenomenon can be attributed to two plausible causes: (1) the way the human mind works; and (2) the way mathematics is traditionally taught in school. In this paper, the following aspects…

Limb Lengthening Using the PRECICETM Nail System: Complications and Results

PubMed Central

Wiebking, Ulrich; Liodakis, Emmanouil; Kenawey, Mohamed; Krettek, Christian

2016-01-01

Background Three types of telescopic nails are mainly used for intramedullary limb lengthening nowadays. Despite some important advantages of this new technology (e.g. controlled distraction rate, not restricted availability, possibility to perform accordion maneuvers), few articles exist on clinical results and complications after lengthening with the PRECICETM nail (Ellipse, USA). Objectives The aim of the current study was to describe and analyze the complications associated with lengthening with the PRECICETM nail. Are the problems preventable when using the PRECICE, related to the distraction rate control, the lengthening goals and technique and handling? Methods We retrospectively reviewed the charts of 9 patients operated between 2012 and 2013 with a PRECICETM nail for a leg length discrepancy (LLD). The mean age of the patients was 32 years (range, 17 - 48 years). There were 5 femoral and 4 tibial procedures. The causes of LLD were posttraumatic (n = 5) and congenital (n = 4). The mean LLD was 36.4 ± 11.4 mm. The minimum follow-ups were 2 months (average, 5 months; range, 2 - 9 months). Results The mean distraction rate was 0.5 ± 0.1 mm/day. We observed in 7 patients differences in achieving the lengthening goals (average, 1.6 mm; range, -20.0 - 5.0 mm). Average lengthening was 34.7 ± 10.7 mm. All patients reached normal alignment and normal joint orientation. An unintentional loss of the achieved length during the consolidation phase was noticed in patients with delayed bone healing in two cases. In the first case (loss of 20mm distraction) the nail could be redistracted and the goal length was achieved. In the second case (loss of 10mm distraction) the nail broke shortly after the diagnosis and the nail was exchanged. Conclusions We report of loss of achieved length after lengthening with a telescopic nail. Weight bearing before complete consolidation of the regenerate might be a risk factor for that. Thorough examination of the limb length and careful

Management of comminuted proximal ulna fracture-dislocations using a multiplanar locking intramedullary nail.

PubMed

Edwards, Scott G; Argintar, Evan; Lamb, Joshua

2011-06-01

Intramedullary nails have been used for the fixation of olecranon fractures in an attempt to reduce the soft tissue irritation and resulting need for hardware removal seen with plating and tension banding. Further benefits include preservation of vascular supply, and increase stability and improved compression over some alternative techniques. Most intramedullary nails have been limited to simple olecranon fractures or osteotomies. One novel multiplanar, locking intramedullary nail, however, is indicated to stabilize all fracture patterns of the proximal ulna, including the coronoid. This particular locking nail has screws that radiate in multiple planes and form a fixed-angle lattice throughout the bone. The nail also has fixed-angle screws dedicated to the 3 parts of the coronoid: process tip, medial facet, and medial wall. This allows the nail to secure multiple fragments regardless of the fracture pattern's extent of instability. The objective of this article is to illustrate the recommended steps in reducing and stabilizing a comminuted proximal ulna fracture-dislocation using this multiplanar locking intramedullary nail.

Runners with Patellofemoral Pain Exhibit Greater Peak Patella Cartilage Stress Compared to Pain-Free Runners.

PubMed

Liao, Tzu-Chieh; Keyak, Joyce H; Powers, Christopher M

2018-02-27

The purpose of this study is to determine whether recreational runners with patellofemoral pain (PFP) exhibit greater peak patella cartilage stress compared to pain-free runners. A secondary purpose was to determine the kinematic and/or kinetic predictors of peak patella cartilage stress during running. Twenty-two female recreational runners participated (12 with PFP and 10 pain-free controls). Patella cartilage stress profiles were quantified using subject-specific finite element models simulating the maximum knee flexion angle during stance phase of running. Input parameters to the finite element model included subject-specific patellofemoral joint geometry, quadriceps muscle forces, and lower extremity kinematics in the frontal and transverse planes. Tibiofemoral joint kinematics and kinetics were quantified to determine the best predictor of stress using stepwise regression analysis. Compared to the pain-free runners, those with PFP exhibited greater peak hydrostatic pressure (PFP vs. control, 21.2 ± 5.6 MPa vs. 16.5 ± 4.6 MPa) and maximum shear stress (11.3 ± 4.6 MPa vs. 8.7 ± 2.3 MPa). Knee external rotation was the best predictor of peak hydrostatic pressure and peak maximum shear stress (38% and 25% of variances, respectively) followed by the knee extensor moment (21% and 25% of variances, respectively). Runners with PFP exhibit greater peak patella cartilage stress during running compared to pain-free individuals. The combination of knee external rotation and a high knee extensor moment best predicted elevated peak stress during running.

Clinical outcome after reconstruction of the medial patellofemoral ligament in paediatric patients with recurrent patella instability.

PubMed

Lind, Martin; Enderlein, Ditte; Nielsen, Torsten; Christiansen, Svend Erik; Faunø, Peter

2016-03-01

Medial patellofemoral ligament (MPFL) reconstruction has recently been broadly accepted as primary surgical treatment in adults. Reconstruction techniques with osseous fixation in femur cannot be used for patients with open growth plates. Operative treatment of patella instability in children therefore is a challenge and requires alternative MPFL reconstruction techniques. Limited knowledge exists concerning outcome after MPFL reconstruction in children and adolescents. This study present clinical outcome in a consecutive single clinic series of children treated with paediatric MPFL reconstruction using a soft tissue femoral fixation technique. Twenty-four MPFL reconstructions in 20 operated children aged 8-16 were included in the study. Indication for surgery was two or more patella dislocations. MPFL reconstruction was performed by looping the released gracilis tendon around the adductor magnus tendon insertion and through drill holes in the proximal medial patella edge. Clinical outcome was evaluated by Kujala score and NRS pain score preoperatively, at 1-year follow-up and final follow-up at 39 months. Outcome was compared with a cohort of 179 adult patients with recurrent patella instability operated with an adult MPFL reconstruction technique. Kujala score improved from 61 (13) to 81 (16). NRS pain score improved from 3.0 (3.1) to 1.5 (1.3) in activity. Four patients (20%) experienced redislocation within the first postoperative year compared with 5% in an adult patient population. Five patients (25%) experienced subluxations. One patient with a redislocation was re-operated with adult MPFL reconstruction technique. Cartilage injury was seen in six patients. There are clinical relevant improvements in knee function and pain after MPFL reconstruction in paediatric patients. Patella stability after MPFL reconstruction using femoral soft tissue graft fixation in paediatric patients was inferior to MPFL reconstruction using bony femoral fixation in adult patients

Treatment of psoriatic nails with indigo naturalis oil extract: a non-controlled pilot study.

PubMed

Lin, Yin-Ku; See, Lai-Chu; Chang, Ya-Ching; Huang, Yu-Huei; Chen, Jiun-Liang; Tsou, Teng-Cheng; Leu, Yann-Lii; Shen, Yu-Ming

2011-01-01

In the treatment of nail psoriasis, standardized therapeutic regimens are currently lacking. To evaluate the therapeutic efficacy of indigo naturalis oil extract in patients with nail psoriasis. Patients with nail psoriasis applied indigo naturalis oil extract on affected nails twice daily for 24 weeks. Efficacy was evaluated using the Nail Psoriasis Severity Index (NAPSI) and modified target NAPSI for the single most severely affected nail. Twenty-eight out of 32 patients completed the study. The mean NAPSI was 36.1 ± 14.7 at baseline and decreased to 14.9 ± 11.1 at week 24 while the mean modified target NAPSI was 11.7 ± 3.9 at baseline and decreased to 3.6 ± 3.2 at week 24. Indigo naturalis oil extract appeared to improve nail psoriasis. Although preliminary, these results indicate that it could provide a novel therapeutic option for nail psoriasis, a disease notoriously difficult to treat. Copyright © 2011 S. Karger AG, Basel.

Withdrawal strength of ring-shank nails embedded in southern pine lumber

Treesearch

M. J. Skulteti; D. A. Bender; S. G. Winistorfer; D. G. Pollock

1997-01-01

Ring-shank nails are used extensively in post-frame construction due to their superior performance, yet surprisingly little testing has been done on nail sizes above 12d Experience in the post-frame industry suggests that published allowable design values for ring-shank nails may be overly conservative and need revision. The goal of the research reported herein was to...

Poland's syndrome and military personnel.

PubMed

Phaltankar, P M; Langdon, J; Clasper, J

2003-12-01

We describe three cases of undiagnosed Poland's syndrome in Army personnel and discuss their fitness according to the PULHHEEMS system. This syndrome has variable clinical features that include unilateral chest wall and upper limb abnormalities. The syndrome is not hereditary and is of unknown origin. If the syndrome was diagnosed prior to enlistment the potential recruit would normally be graded P8, and unfit to enlist. However, these individuals had managed to pass routine medical examination as well as successfully complete basic training. The suitability of continuation in the army of personnel with Poland's syndrome is discussed.

Nail gun injuries to the head with minimal neurological consequences: a case series.

PubMed

Makoshi, Ziyad; AlKherayf, Fahad; Da Silva, Vasco; Lesiuk, Howard

2016-03-16

An estimated 3700 individuals are seen annually in US emergency departments for nail gun-related injuries. Approximately 45 cases have been reported in the literature concerning nail gun injuries penetrating the cranium. These cases pose a challenge for the neurosurgeon because of the uniqueness of each case, the dynamics of high pressure nail gun injuries, and the surgical planning to remove the foreign body without further vascular injury or uncontrolled intracranial hemorrhage. Here we present four cases of penetrating nail gun injuries with variable presentations. Case 1 is of a 33-year-old white man who sustained 10 nail gunshot injuries to his head. Case 2 is of a 51-year-old white man who sustained bi-temporal nail gun injuries to his head. Cases 3 and 4 are of two white men aged 22 years and 49 years with a single nail gun injury to the head. In the context of these individual cases and a review of similar cases in the literature we present surgical approaches and considerations in the management of nail gun injuries to the cranium. Case 1 presented with cranial nerve deficits, Case 2 required intubation for low Glasgow Coma Scale, while Cases 3 and 4 were neurologically intact on presentation. Three patients underwent angiography for assessment of vascular injury and all patients underwent surgical removal of foreign objects using a vice-grip. No neurological deficits were found in these patients on follow-up. Nail gun injuries can present with variable clinical status; mortality and morbidity is low for surgically managed isolated nail gun-related injuries to the head. The current case series describes the surgical use of a vice-grip for a good grip of the nail head and controlled extraction, and these patients appear to have a good postoperative prognosis with minimal neurological deficits postoperatively and on follow-up.

[Molecular genetics of familial tumour syndromes of the central nervous system].

PubMed

Murnyák, Balázs; Szepesi, Rita; Hortobágyi, Tibor

2015-02-01

Although most of the central nervous system tumours are sporadic, rarely they are associated with familial tumour syndromes. These disorders usually present with an autosomal dominant inheritance and neoplasia develops at younger age than in sporadic cases. Most of these tumours are bilateral, multiplex or multifocal. The causative mutations occur in genes involved in cell cycle regulation, cell growth, differentiation and DNA repair. Studying these hereditary cancer predisposition syndromes associated with nervous system tumours can facilitate the deeper understanding of the molecular background of sporadic tumours and the development of novel therapeutic agents. This review is an update on hereditary tumour syndromes with nervous system involvement with emphasis on molecular genetic characteristics and their clinical implications.

Nail disorders in older people, and aspects of their pharmaceutical treatment.

PubMed

Murdan, Sudaxshina

2016-10-30

The aim of this paper was to explore how aging influences the nail unit, its disorders and its response to treatment, and to identify some of the age-related gaps in the ungual drug delivery literature. Aging causes obvious changes to the nail, some of which are inherently due to old age, while others are due to diseases/conditions which become more prevalent as we age. Alterations in the nail plate's colour, contour, thickness, fragility, surface features, cell size, chemical composition and growth rate are some of the changes, with toenails and fingernails showing different effects. With respect to disease, the incidence of onychomycosis - the most common nail disorder - is considerably higher in older people. Similarly, brittle nails become more common as we age. In contrast, the literature about aging and the incidence of nail psoriasis is inconclusive, although, it is clear that as one gets older, the negative impact of nail psoriasis on one's quality of life decreases. Pharmaceutical treatment of the diseases comprises local and systemic therapies, sometimes in combination. Systemic therapies have the inherent disadvantages of adverse systemic effects, drug interactions and the need for monitoring, disadvantages which are especially problematic for older people who are more likely to suffer from co-morbidities and be on other medications. Topical therapy avoids such disadvantages. However, the success rates of commercially available preparations are low, and older people may need help with their application. It is also proposed that regular inspection and grooming of nails should become part of routine care of older people, as these would provide opportunities to identify and treat any problems at an earlier stage. Copyright © 2016 Elsevier B.V. All rights reserved.

Investigating relations among stress, sleep and nail cortisol and DHEA.

PubMed

Doan, Stacey N; DeYoung, Gerrit; Fuller-Rowell, Thomas E; Liu, Cindy; Meyer, Jerrold

2018-03-01

In the current study, we present data investigating the relationships among stress, sleep disturbance, self-control, and levels of cortisol (CORT) and dehydroepiandrosterone (DHEA) in fingernail clippings. Currently, hair CORT is the only routinely used noninvasive, validated, biomarker of chronic exposure to stress-related hormones. Nail clippings represent an important potential alternative sample matrix for assessing chronic hormone exposure, as it offers a different timeline of hormone incorporation than scalp hair, and may be obtainable from populations in which hair either is lacking or is unavailable for cultural reasons. Moreover, there is established precedent for using fingernail clippings to attain biomarker data. However, the value of nail hormone assessment for psychological research is currently unknown due to a paucity of information on the relations between nail hormone concentrations and environmental or psychological variables. In the present study, we collected data from a low income, minority population (N = 47; 97% African American) to demonstrate feasibility and acceptability of nail collection and analysis of the adrenal steroids CORT and DHEA. Participants reported on perceived stress, sleep and self-control abilities. Correlational analyses suggest that exposure to stressful events, disturbances in sleep and waking were associated with higher levels of nail DHEA, while self-control was associated with higher levels of nail CORT. We discuss the potential importance of this methodology for investigating biological, behavioral, and subjective indices of stress and well-being.

Neurovascular Structures at Risk With Curved Retrograde TTC Fusion Nails.

PubMed

de Cesar Netto, Cesar; Johannesmeyer, David; Cone, Brent; Araoye, Ibukunoluwa; Hudson, Parke William; Sahranavard, Bahman; Johnson, Michael; Shah, Ashish

2017-10-01

The purpose of this study was to assess the risk of iatrogenic injury to plantar neurovascular structures of the foot during insertion of a curved retrograde tibiotalocalcaneal (TTC) fusion nail. Ten below-knee thawed fresh-frozen cadaveric specimens underwent curved retrograde nailing of the ankle. The shortest distance between the nail and the main plantar neurovascular branches and injured structures were recorded during dissection. We also evaluated the relative position of these structures along 2 lines (AB, connecting the calcaneus to the first metatarsal, and BC, connecting the first and fifth metatarsal). The lateral plantar artery was found to be in direct contact with the nail 70% of the time, with a macroscopic laceration 30% of the time. The Baxter nerve was injured 20% of the time, as was the lateral plantar nerve. The medial plantar artery and nerve were never injured. The most proximal structure to cross line AB was the Baxter nerve followed by the lateral plantar artery, the nail, the lateral plantar nerve, and the medial plantar nerve. Our cadaveric anatomic study found that the most common structures at risk for iatrogenic injury by lateral curved retrograde TTC fusion nails were the lateral plantar artery and nerve, and the Baxter nerve. Determination of a true neurovascular safe zone is challenging and therefore warrants careful operative dissection to minimize neurovascular injuries.

The association of patellofemoral joint morphology with chondromalacia patella: a quantitative MRI analysis.

PubMed

Tuna, Burcu Kaya; Semiz-Oysu, Aslıhan; Pekar, Bilhan; Bukte, Yasar; Hayirlioglu, Alper

2014-01-01

The relationship of patellofemoral congruency with chondromalacia patellae (CP) was retrospectively evaluated. Lateral patellar tilt angle (LPTA), sulcus angle (SA), trochlear depth (TD), and patella angle (PA) were measured at 301 knee magnetic resonance images and compared between groups with and without CP. In the CP group, LPTA and TD were significantly low (P<.01), SA was high (P<.01), while PA showed no difference (P>.05). The parameters were also compared between groups with mild and severe CP, and no significant difference was found (P>.05). Our results demonstrate that patellar tilt and trochlear dysplasia are related to the presence but not the degree of CP. Copyright © 2014 Elsevier Inc. All rights reserved.

Rapid Treatment of Subungual Onychomycosis Using Controlled Micro Nail Penetration and Terbinafine Solution.

PubMed

Bristow, Ivan; Baran, Robert; Score, Michelle

2016-08-01

Onychomycosis continues to be a common and intractable problem in adults, often responding poorly to topical treatment due to limited drug penetration of the nail plate. Improving penetration has been attempted previously by chemical and physical means with some success. The authors present three cases of toenail onychomycosis treated topical terbinafine 1% solution using controlled micro-penetration of the nail using a novel intelligent nail drill system which is able to drill nail plate without penetrating the delicate nail bed beneath. The cases illustrate how the device has been successfully employed to deliver the anti-fungal drug directly and rapidly to the site of infection with minimal side effects or complications, whilst maintaining the nail integrity.

J Drugs Dermatol. 2016;15(8):974-978.

The coupled effects of crouch gait and patella alta on tibiofemoral and patellofemoral cartilage loading in children.

PubMed

Brandon, Scott C E; Thelen, Darryl G; Smith, Colin R; Novacheck, Tom F; Schwartz, Michael H; Lenhart, Rachel L

2018-02-01

Elevated tibiofemoral and patellofemoral loading in children who exhibit crouch gait may contribute to skeletal deformities, pain, and cessation of walking ability. Surgical procedures used to treat crouch frequently correct knee extensor insufficiency by advancing the patella. However, there is little quantitative understanding of how the magnitudes of crouch and patellofemoral correction affect cartilage loading in gait. We used a computational musculoskeletal model to simulate the gait of twenty typically developing children and fifteen cerebral palsy patients who exhibited mild, moderate, and severe crouch. For each walking posture, we assessed the influence of patella alta and baja on tibiofemoral and patellofemoral cartilage contact. Tibiofemoral and patellofemoral contact pressures during the stance phase of normal gait averaged 2.2 and 1.0 MPa. Crouch gait increased pressure in both the tibofemoral (2.6-4.3 MPa) and patellofemoral (1.8-3.3 MPa) joints, while also shifting tibiofemoral contact to the posterior tibial plateau. For extended-knee postures, normal patellar positions (Insall-Salvatti ratio 0.8-1.2) concentrated contact on the middle third of the patellar cartilage. However, in flexed knee postures, both normal and baja patellar positions shifted pressure toward the superior edge of the patella. Moving the patella into alta restored pressure to the middle region of the patellar cartilage as crouch increased. This work illustrates the potential to dramatically reduce tibiofemoral and patellofemoral cartilage loading by surgically correcting crouch gait, and highlights the interaction between patella position and knee posture in modulating the location of patellar contact during functional activities. Copyright © 2017 Elsevier B.V. All rights reserved.

CalNail : a design tool for soil nail projects using field case histories.

DOT National Transportation Integrated Search

2006-06-01

Currently, geotechnical staff within Caltrans do not have ready access to detailed information on : previously designed soil nail walls. Much of this information is kept by individual designers, or stored in : paper format, with no organized method o...

Complications of tibio-talar-calcaneal fusion using intramedullary nails.

PubMed

Fenton, P; Bali, N; Matheshwari, R; Youssef, B; Meda, K

2014-12-01

Hindfoot nails are being increasingly used, however significant complications can occur. The purpose of this study was to assess the complications following the use of hindfoot nails at our institution. We identified patients from a retrospective database. All underwent hindfoot nailing under the care of the senior author. Details of complications were recorded. We identified 52 patients undergoing 55 procedures. Mean follow up was 44.8 months (18-69). Forty patients achieved ankle fusion and 36 subtalar joint fusion. Complications included prominent metalwork in 13 patients, CRPS in five and one peri-prosthetic fracture. Nine developed deep infection, and of these limb salvage was achieved in six patients by removal of metalwork, debridement and insertion of antibiotic loaded cement beads. The remaining three patients underwent below knee amputation. Significant complications can occur, although limb preservation was possible in most cases of deep infection. Hindfoot nailing should be reserved as salvage procedure. Copyright © 2014 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

Arthrodesis in septic knees using a long intramedullary nail: 17 consecutive cases.

PubMed

Leroux, B; Aparicio, G; Fontanin, N; Ohl, X; Madi, K; Dehoux, E; Diallo, S

2013-06-01

Intramedullary nailing using long or modular nails is the most reliable mean of achieving femorotibial fusion. Here, we report the operative, clinical, functional, and radiological outcomes of 17 long intramedullary nail arthodeses in patients with infection. Clinical and functional outcomes after long intramedullary nailing are at least as good as those obtained using other implants. We retrospectively reevaluated 17 patients after unilateral two-stage knee arthrodesis with a long titanium intramedullary nail and autologous bone grafting. We evaluated satisfaction, leg length discrepancy, and function (Lequesne and WOMAC indices). Radiographs were obtained to assess fusion, time to fusion, and femorotibial angles. No cases of material failure were recorded. One or more complications occurred in seven patients. Mean limb shortening was 27.6mm. Of the 17 patients, 15 were satisfied with the procedure. The mean Lequesne index was 10.5/24 and the mean overall WOMAC score was 26/88. Fusion was achieved in 16 patients, with a mean time to fusion of 5 months. Mean femorotibial angles were 178.6° of varus and 1.9° of flexion. This simple and rapid surgical technique provides functional outcomes similar to those obtained using modular nails. The fusion rate is high. Nail extraction is simple and causes minimal damage, in contrast to modular nails. Increased attention to misalignment is needed. Level IV, retrospective study. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Signs and genetics of rare cancer syndromes with gastroenterological features

PubMed Central

Bruno, William; Fornarini, Giuseppe; Ghiorzo, Paola

2015-01-01

Although the genetic bases of most hereditary cancer syndromes are known, and genetic tests are available for them, the incidence of the most rare of these syndromes is likely underestimated, partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs, though not necessarily tumors, that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis, and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects. PMID:26290627

Socioeconomic factors and individual lifestyles influencing the incidence of patella fractures: a national population-based survey in China.

PubMed

Zhu, Yanbin; Liu, Song; Chen, Wei; Wang, Lin; Zhang, Xiaolin; Zhang, Yingze

2018-05-19

We aimed to do a national survey on the population-based incidence of patella fractures and related risk factors fracture in China. All the data on patella fractures were available from the China National Fracture Survey (CNFS) between January and May in 2015. And in the CNFS, all eligible household members were selected from 24 urban cities and 24 rural counties of eight provinces of China, with stratified random sampling and the probability proportional to size method used. Questionnaire was sent to every participant for data collection and quality control was accomplished by our research team members. A total of 512,187 valid questionnaires were collected, and relevant data were abstracted. There were a total of 69 patients with 69 patella fractures that occurred in 2014, indicating that the incidence was 13.5 (95% CI, 10.3-16.7))/100,000 person-years. Slip, trip, or fall from standing height was the most common cause, leading to 69.6% (48/69) of patella factures, followed by traffic accidents (18.8%, 13/69). Home and road were the first two most common places, where 86.9% of the overall injuries occurred. Age of 45-64 and 65-74 years, alcohol consumption and previous history of fractures were identified as independent risk factors for patella fracture. Specific public health policies focusing on decreasing alcohol consumption should be implemented. Individuals aged 45-64 and 65-74 should pay more attention to bone mass density and prevention of falls, especially those with previous history of fracture.

Changes in nail keratin observed by Raman spectroscopy after Nd:YAG laser treatment.

PubMed

Shin, Min Kyung; Kim, Tae In; Kim, Wan Sun; Park, Hun-Kuk; Kim, Kyung Sook

2017-04-01

Lasers and photodynamic therapy have been considered a convergence treatment for onychomycosis, which is a fungal infection on the nail bed and nail plate. Laser therapies have shown satisfactory results without significant complications for onychomycosis; however, the mechanism of clearing remains unknown. In this work, we investigated changes in the chemical structure of nail keratin induced by Nd:YAG laser using Raman spectroscopy. Toe nails with onychomycosis were treated with 1064 nm Nd:YAG laser. After laser treatment, the disulfide band (490-590 cm -1 ) of nail keratin was rarely observed or was reduced in intensity. The amide I band (1500-1700 cm -1 ) also showed changes induced by the laser. The α-helical (1652 cm -1 ) structures dominated the β-sheet (1673 cm -1 ) in nontreated nail, but the opposite phenomenon was observed after laser treatment. © 2016 Wiley Periodicals, Inc.

Jumbo Cutter for Removal of A Bent Femoral Interlocking Nail: A Cost Effective Method

PubMed Central

Dhanda, Manjeet Singh; Sharma, Sansar C; Ali, Nadeem; Bhat, Abedullah

2015-01-01

Closed diaphyseal femoral shaft fractures can be treated with multiple surgical options. It is more challenging to remove a bent nail than a broken one because it is difficult to retrieve the bent nail through the intramedullary canal. Various authors have published their techniques for removal of bent femoral interlocking nail. This article describes a simple technique using Jumbo cutter for sectioning and removal of bent interlocking nail. This technique will help orthopaedic surgeons to remove bent nail without using any specialised metal cutting instruments. PMID:26266173

Pulsatile and steady-state hemodynamics of the human patella bone by diffuse optical spectroscopy.

PubMed

Farzam, Parisa; Zirak, Peyman; Binzoni, Tiziano; Durduran, Turgut

2013-08-01

The cardiac cycle related pulsatile behavior of the absorption and scattering coefficients of diffuse light and the corresponding alterations in hemoglobin concentrations in the human patella was studied. The pulsations in scattering is considerably smaller than absorption. The difference in amplitude of absorption coefficient pulsations for different wavelengths was translated to pulsations in oxygenated and deoxygenated hemoglobin, which leads to strong pulsations in the total hemoglobin concentration and oxygen saturation. The physiological origin of the observed signals was confirmed by applying a thigh-cuff. Moreover, we have investigated the optical and physiological properties of the patella bone and their changes in response to arterial cuff occlusion.

Brittle Splitting Nails (Onychoschizia)

MedlinePlus

... be divided into dry and brittle (too little moisture) and soft and brittle (often too much moisture). The usual cause is repeated wetting and drying ... that the nails may be getting too much moisture or being damaged by chemicals such as detergents, ...

Anterior augmentation plating of aseptic humeral shaft nonunions after intramedullary nailing.

PubMed

Gessmann, Jan; Königshausen, Matthias; Coulibaly, Marlon Osman; Schildhauer, Thomas Armin; Seybold, Dominik

2016-05-01

Humeral shaft nonunion after intramedullary nailing is a rare but serious complication. Treatment options include implant removal, open plating, exchange nailing and external fixation. The objective of this retrospective study was to determine whether augmentation plating without nail removal is feasible for treating a humeral shaft nonunion. Between 2002 and 2014, 37 patients (mean age 51, range 20-84 years) with aseptic humeral shaft nonunions prior to intramedullary nailing were treated with augmentation plating. The initial fractures had been fixed with retrograde nails (10 cases) or anterograde nails (27 cases). There were 34 atrophic nonunions and 3 hypertrophic nonunions. Nonunion treatment of all patients consisted of local debridement through an anterior approach to the humerus and anterior placement of the augmentation plates. Supplemental bone grafting was performed in all atrophic nonunion cases. All patients were followed until union was radiologically confirmed. Union was achieved in 36 patients (97 %) after a mean of 6 months (range 3-24 months). There was one case of iatrogenic median nerve palsy that showed complete spontaneous recovery 6 weeks postoperatively. One patient sustained a peri-implant stress fracture that was treated successfully by exchanging the augmentation plate to bridge the nonunion and the fracture. No infections or wound healing complications developed. At a mean follow-up of 14 months, all patients showed free shoulder and elbow motion and no restrictions in daily or working life. The results indicate that augmentation plating using an anterior approach is a safe and reliable option for humeral shaft nonunions after failed nailing, and the treatment has no substantial complications. Because the healing rates are similar to the standard technique of nail removal and fixation by compression or locking plates, we consider this technique to be an alternative choice for treatment.

A Pilot Study: Nailing Indian Elections with the Indelible Ink Mark

PubMed Central

Abraham, Anil; Roga, Gillian; Thomas, Naveen

2015-01-01

Context: The indelible ink that's used in our elections was developed by National Physical Laboratories (NPL), Delhi in 1962, and has been used ever since. Though formulated by NPL, it is manufactured by Mysore Paints and Varnish Ltd. owned by the Karnataka Government. Earlier, the ink mark was applied on the cuticle but with effect from February 01, 2006 the ink is applied on the voter's left index fingernail from the distal end proximally until the cuticle using an applicator. This idea of the ink mark applied during elections was used as a simple tool to measure the rate of nail growth in a busy outpatient department of a Tertiary Hospital in South India. Aims: To assess the feasibility of using the ink mark during elections as a method of obtaining data of nail growth across the spectrum of the entire country. Subjects and Methods: In 74 patients presenting to a hospital, the rate of nail growth was measured. The voter's mark on the left index fingernail of patients during the recent elections was used as a marker for measuring the length of the nail. Results: The average rate of nail growth was 0.113 mm/day. The rate of nail growth was found to be more in females, younger individuals, pregnancy, patients on nutritional supplementation, psoriasis. Conclusion: This study which was conducted on 74 patients using the election ink mark successfully confirmed the possibility of using it as an efficient tool in measuring the rate of nail growth. The findings revealed the slightly higher rate of nail growth as compared to a study done by Rani et al. However, the limited sample size in this study was the major limitation. PMID:26677268