Transthyretin-assoziierte familiäre Amyloidpolyneuropathie

2018 ◽  
Vol 143 (06) ◽  
pp. 427-430
Author(s):  
Christoph Niemietz ◽  
Christoph Röcken ◽  
Matthias Schilling ◽  
Jörg Stypman ◽  
Constantin Uhlig ◽  
...  

AbstractTransthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 – 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated. False diagnoses can include idiopathic polyneuropathy, chronic inflammatory demyelinating polyneuropathy, diabetic neuropathy as well as paraneoplastic syndrome. Hence, it is assumed that many cases remain unreported. Early and correct diagnosis of TTR-FAP is crucial, since appropriate therapeutic options exist. TTR-FAP should always be differentially diagnosed, when apart from a progressive peripheral polyneuropathy, additional symptoms as autonomic dysfunction, cardiomyopathy, gastrointestinal disorders, unexpected loss of weight, carpal tunnel syndrome, restrictions of renal function, epileptic fits, and corneal and vitreous body clouding occur. Histological evidence of amyloid and successive immunohistochemical evidence of transthyretin as well as genetic testing for transthyretin mutations, lead to an accurate diagnosis.

2021 ◽  
Vol 16 (01) ◽  
pp. e37-e45
Author(s):  
Geoffrey K. Seidel ◽  
Salma Al Jamal ◽  
Eric Weidert ◽  
Frederick Carington ◽  
Michael T. Andary ◽  
...  

Abstract Background The relationship between tarsal tunnel syndrome (TTS), electrodiagnostic (Edx) findings, and surgical outcome is unknown. Analysis of TTS surgical release outcome patient satisfaction and comparison to Edx nerve conduction studies (NCSs) is important to improve outcome prediction when deciding who would benefit from TTS release. Methods Retrospective study of 90 patients over 7 years that had tarsal tunnel (TT) release surgery with outcome rating and preoperative tibial NCS. Overall, 64 patients met study inclusion criteria with enough NCS data to be classified into one of the following three groups: (1) probable TTS, (2) peripheral polyneuropathy, or (3) normal. Most patients had preoperative clinical provocative testing including diagnostic tibial nerve injection, tibial Phalen's sign, and/or Tinel's sign and complaints of plantar tibial neuropathic symptoms. Outcome measure was percentage of patient improvement report at surgical follow-up visit. Results Patient-reported improvement was 92% in the probable TTS group (n = 41) and 77% of the non-TTS group (n = 23). Multivariate modeling revealed that three out of eight variables predicted improvement from surgical release, NCS consistent with TTS (p = 0.04), neuropathic symptoms (p = 0.045), and absent Phalen's test (p = 0.001). The R 2 was 0.21 which is a robust result for this outcome measurement process. Conclusion The best predictors of improvement in patients with TTS release were found in patients that had preoperative Edx evidence of tibial neuropathy in the TT and tibial nerve plantar symptoms. Determining what factors predict surgical outcome will require prospective evaluation and evaluation of patients with other nonsurgical modalities.


Vestnik ◽  
2021 ◽  
pp. 97-101
Author(s):  
М.А. Алиев ◽  
М.Ж. Мирзабаев ◽  
В.С. Караваев

Грыжа диска (ГД) является распространенным заболеванием и наносит большой вред как физическому, так и психическому здоровью пациентов, страдающих этим заболеванием. Главным этиологическим фактором заболевания служит дегенерация диска. В настоящее время общее определение грыжи межпозвонкового диска в клинической медицине довольно запутанно. В настоящее время общее определение грыжи межпозвонкового диска в клинической медицине довольно запутанно. Окончательный диагноз ГД основывается на совокупности анамнеза, клинических симптомов и результатах визуализации. Herniated disc is a common disease and causes great harm to both the physical and mental health of patients suffering from this disease. The main etiological factor of the disease is disc degeneration. Currently, the general definition of a herniated disc in clinical medicine is quite confusing. Currently, the general definition of a herniated disc in clinical medicine is quite confusing. The final diagnosis of HD is based on a combination of anamnesis, clinical symptoms, and imaging results.


2021 ◽  
Vol 14 (9) ◽  
pp. e243574
Author(s):  
Salini Sumangala ◽  
Thidar Htwe ◽  
Yousuf Ansari ◽  
Lidia Martinez- Alvarez

Primary central nervous system lymphoma (PCNSL) is infrequent and often poses diagnostic conundrums due to its protean manifestations. We present the case of a South Asian young man presenting with raised intracranial pressure and a lymphocytic cerebrospinal fluid (CSF) with pronounced hypoglycorrhachia. Progression of the neuro-ophthalmic signs while on early stages of antitubercular treatment led to additional investigations that produced a final diagnosis of primary leptomeningeal lymphoma. Treatment with chemoimmunotherapy (methotrexate, cytarabine, thiotepa and rituximab (MATRix)) achieved full radiological remission followed by successful autologous transplant. This case highlights the difficulties and diagnostic dilemmas when PCNSL presents as a chronic meningeal infiltrative process. While contextually this CSF is most often indicative of central nervous system tuberculosis and justifies empirical treatment initiation alone, it is essential to include differential diagnoses in the investigation work-up, which also carry poor prognosis without timely treatment. High suspicion, multidisciplinary collaboration and appropriate CSF analysis were the key for a correct diagnosis.


10.3823/2607 ◽  
2019 ◽  
Vol 12 ◽  
Author(s):  
Ching-Hsiang Wang ◽  
Jenq-Shyong Chan ◽  
Chung-Chi Yang ◽  
Po-Jen Hsiao

The typical clinical symptoms of hemothorax include a rapid development of chest pain or dyspnea, which may be life-threatening without immediate management. As we know, spontaneous hemothorax, a collection of blood within the pleural cavity without previous history of trauma or other cause, which usually onsets suddenly. The early and accurate diagnosis of spontaneous hemothorax is imperative in clinical practice. We reported a middle-age male undergoing regular hemodialysis was referred to our emergency department due to unknown cause of dyspnea and acute respiratory failure. Chest radiography revealed bilateral patchy infiltration of lung. Pleural tap analysis showed exudative pleural effusion with numerous red blood cells. Video-assisted thoracic surgery (VATS) were performed and confirmed the final diagnosis of spontaneous hemothorax. He was then successfully treated with the surgery of VATS combined chest tube thoracostomy.


1998 ◽  
Vol 56 (2) ◽  
pp. 176-183
Author(s):  
AFONSO CARLOS NEVES ◽  
RICARDO DE CASTRO CINTRA SESSO ◽  
HENRIQUE BALLALAI FERRAZ ◽  
SÍLVIO FRANCISCO ◽  
JOÃO BAPTISTA DOS REIS-FILHO

We evaluated the initial and final diagnosis of 80 patients with delirium arriving at the emergence unit of a university hospital in a large Brazilian city over a period of 30 months up to December 1991. The diagnosis was based on the DSM-IIIR criteria. Patients with a known history of head trauma or epileptic seizure and patients younger than 13 years were excluded. Only patients with a disease of up to 7 days were included.The patients were subdivided into four etiologic groups: vascular; associated with the use of alcohol; infectious-parasitic; miscellaneous.The results showed a rate of correct diagnosis ranging from 65 to 80% with the use of kappa test (standard good to excelent). Sensitivity, specificity, positive predictive and negative predictive values had results showing different conditions for initial diagnosis in each group. This study can help the initial diagnosis of delirium and the choice for diagnostic testing.


2018 ◽  
pp. 116-118
Author(s):  
M.V. Makarenko ◽  
◽  
D.O. Govseyev ◽  
S.V. Gridchin ◽  
N.H. Isaeva ◽  
...  

Desmoid tumors (also called desmoids fibromatosis) are rare slow growing benign and musculoaponeurotic tumors. Although these tumors have a propensity to invade surrounding tissues, they are not malignant. These tumors are associated with women of fertile age, especially during and after pregnancy and postoperative surgeries. Our clinical case is interesting because of the rarity of the pathology and the difficulties in setting the correct diagnosis. The patient, with a history of laparoscopic myomectomy (2012), was preparing for a routine surgery for the endometrioma of the anterior abdominal wall, according to the results of the ultrasound and computed tomography. After surgical treatment, the final diagnosis was changed, based on the histological findings. Key words: desmoid tumor, abdominal wall tumor, fibroid.


2021 ◽  
Vol 16 (2) ◽  
pp. 74-79
Author(s):  
M.D. Zvereva ◽  
◽  
S.S. Kanash ◽  
S.I. Petrova ◽  
V.A. Evseev ◽  
...  

Diagnosis of tuberculosis in children is challenging because of variable clinical symptoms and no specific signs. We report a case of tuberculous osteomyelitis of the ribs, which demonstrates difficulties associated with the diagnosis of generalized tuberculosis in an 8-year-old child (correct diagnosis was established after 1.3 years). Diagnostic procedures included: Mantoux test, skin test with recombinant tuberculosis allergen, computed tomography, pathomorphological and bacterioscopic testing. The patient presented with disease progression and lesions to the lung tissue, pleura, and ribs and did not respond to antibacterial therapy, hormones, and cytostatics. This required repeated diagnosis revision. The diagnosis of tuberculosis of the right 4th and 5th ribs was confirmed after surgery using bacterioscopic and immunohistochemical examinations. The child received comprehensive treatment in a specialized tuberculosis hospital and had positive dynamics. Despite the correct routing, low suspicion for tuberculosis in primary and secondary healthcare institutions has led to an insufficient use of currently available diagnostic methods and late diagnosis of tuberculosis in a child residing in a megapolis. Key words: generalized tuberculosis, children, tuberculosis of the rib, immunodiagnostics, diagnosis of tuberculosis, immunohistochemistry


2019 ◽  
Vol 12 (2) ◽  
pp. e226361
Author(s):  
John Titus George ◽  
Mohammad Sadiq ◽  
Elanthenral Sigamani ◽  
Alice Joan Mathuram

A 27-year-old man presented with high-grade intermittent fever for 4 months, generalised fatigue for 2 months, intermittent gum bleeds for 1 month and loss of weight of 15 kg. He appeared cachectic with generalised wasting, had pallor and features of reticuloendothelial system proliferation. His liver span was 17 cm. He had massive splenomegaly. His cardiovascular, respiratory and neurological examination were normal. He was diagnosed to have visceral leishmaniasis (VL) based on bone marrow (BM) examination that showed Leishmania donovani (LD) bodies and was treated with liposomal amphotericin (LA). During the course of therapy, he developed bleeding from various mucosal and venepuncture sites. His further evaluation, which included a repeat BM aspirate, showed haemophagocytes. Final diagnosis made was VL with secondary haemophagocytic lymphohistiocytosis. He was continued on LA with intravenous hydrocortisone. He developed refractory distributive shock with multiorgan dysfunction and succumbed to his illness.


Hematology ◽  
2005 ◽  
Vol 2005 (1) ◽  
pp. 360-367 ◽  
Author(s):  
Angela Dispenzieri

Abstract POEMS syndrome is defined by the presence of a peripheral neuropathy (P), a monoclonal plasma cell disorder (M), and other paraneoplastic features, the most common of which include organomegaly (O), endocrinopathy (E), skin changes (S), papilledema, edema, effusions, ascites, and thrombocytosis. Virtually all patients will have either sclerotic bone lesion(s) or co-existent Castleman’s disease. Not all features of the disease are required to make the diagnosis, and early recognition is important to reduce morbidity. Other names for the syndrome include osteosclerotic myeloma, Crow-Fukase syndrome, or Takatsuki syndrome. Because the peripheral neuropathy is frequently the overriding symptom and because the characteristics of the neuropathy are similar to that chronic inflammatory demyelinating polyneuropathy (CIDP), patients are frequently misdiagnosed with CIDP or monoclonal gammopathy of underdetermined significance (MGUS)-associated peripheral neuropathy. Not until additional features of the POEMS syndrome are recognized is the correct diagnosis made and effective therapies initiated. Clues to an early diagnosis include thrombocytosis and sclerotic bone lesions on plain skeletal radiographs. Therapies that may be effective in patients with CIDP and MGUS-associated peripheral neuropathy (intravenous gammaglobulin and plasmapheresis) are not effective in patients with POEMS. Instead, the mainstays of therapy for patients with POEMS include irradiation, corticosteroids, and alkylator-based therapy, including high-dose chemotherapy with peripheral blood stem cell transplantation.


2002 ◽  
Vol 7 (2) ◽  
Author(s):  
M. A. SILVA ◽  
L. E. KOZICKI ◽  
P. R. DALSENTER

Na presente pesquisa objetivou-se estudar os efeitos do gossipol (C30H30O8) na gestação e consequente lactação, de 40 ratas com idade média de 120 dias e peso variando entre 200 e 250 gramas, oriundas do Biotério Central da Universidade Federal do Paraná. Os animais foram acompanhados diariamente até a confirmação da cobertura através de esfregaço de lavado vaginal (esfregaço positivo - presença de espermatozóides) e separados em quatro grupos de dez animais: G I - controle, G II – gossipol 20 mg.kg-1, G III – gossipol 40 mg.kg-1, G IV - gossipol 80 mg.kg-1 respectivamente de acordo com a concentração de gossipol presente na suspensão utilizada (gossipol 20 mg.mL-1, gossipol 40 mg.mL-1 e gossipol 80 mg.mL-1). O gossipol ácido acético (GAA 97,8 % de pureza) diluído em óleo vegetal de canola (veículo) foi administrado oralmente para todos os animais no volume de 1 mL de suspensão para cada quilo de peso vivo. A administração da droga iniciou-se no 5o dia de gestação estendendo-se até o 20º. O peso das ratas foi aferido diariamente, do dia da cobertura até o dia do parto, a fim de se observar possíveis efeitos tóxicos durante a gestação. Durante a lactação as ratas e os filhotes eram pesados a cada 3 dias para acompanhar o desenvolvimento dos filhotes e recuperação materna. No desmame (21o dia pós-parto) todas as fêmeas foram sacrificadas para a observação dos pontos uterinos de implantação, comparando-se o número de fetos nascidos com o número de fetos gerados. Durante o experimento sete ratas do grupo G IV e uma do G III morreram, além de abortos e sinais de canibalismo na parturição. Observou-se como sinais de toxicidade: diarréia, inapetência, pelos eriçados, taquipnéa e perda de peso. Nenhum filhote apresentou alterações morfológicas macroscópicas. Concluiu-se que o gossipol (GAA) causou intoxicação grave nos animais que receberam maior dosagem, bem como interferiu no ganho de peso das ratas durante a gestação, peso ao nascimento e peso à desmama dos filhotes. Contudo não interferiu no processo de manutenção da gestação e no número de filhotes nascidos quando administrado entre o 5o e 20º dia de gestação. Gossypol toxicity in pregnant and nursing rats – Rattus rattus norvegicus Abstract In order to study the effects of gossypol (C30H30O8) in pregnancy and lactation, 40 female rats (120 days old) weighing between 200 and 250 grams, were used in this experiment. The animals were divided in four different group GI (n = 10), GII (n = 10), GIII (n = 10) and GIV (n = 10). The daily oral dose administered by gavage to the animals of each group was of 0, 20, 40 and 80 mg.kg-1 respectively of gossypol dissolved in canole oil. All rats were weighed daily from the day of copulation (0 day) to the day of parturition, for evaluation of the toxic effects during pregnancy. All rats and their offspring were weighed on days 3, 6, 9, 12, 15, 18 and 21 (day of weaning) of lactation. At the day of weaning, all rats were killed in order to observe the number of uterine implantation sites. Eight rats (1 from GIII group and 7 from GIV) died during the period of drug administration besides the occurrence of abortions and cannibalism at the parturition. Clinical symptoms of toxicity were diarrhea, inappetency, bristly hair, tachypnea, loss of weight. Neither pup displayed either macroscopic or morphological alterations. Heavy poisoning has been induced in rats that received higher doses of gossypol acetate as well as a dose-dependent decrease in body weight gain in pregnant rats, lesser weight at birth and at weaning. Nevertheless, gossypol did not interfere in the maintenance of pregnancy and in the number of pups born when administered from day 5 through day 20 of pregnancy.


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