scholarly journals Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria and Cardiomyopathy

2017 ◽  
Vol 08 (03) ◽  
pp. 448-450
Author(s):  
Sira Carrasco García de León ◽  
Amalia Hernández González ◽  
Carmen Orellana Alonso ◽  
Laura Burriel Lobo
Keyword(s):  
Late Onset ◽  
Abdominal Fat ◽  
Familial Amyloidotic Polyneuropathy ◽  
Light Chains ◽  
Sensorimotor Polyneuropathy ◽  
Cardiac Symptoms ◽  
Hands And Feet ◽  
High Index Of Suspicion ◽  
Genetically Determined ◽  
Difficulty Walking

ABSTRACTFamilial amyloidotic polyneuropathy is a genetically determined disease characterized by deposition of an anomalous transthyretin. A high index of suspicion is needed for this multisymptomatic and lethal disease to be diagnosed. The patient was a 70-year-old male examined due to hypesthesia in the hands and feet, plus difficulty walking. A neurophysiological study delivered the diagnosis of axonal sensorimotor polyneuropathy. He later developed cardiac symptoms and diarrhea. Urine laboratory analyses revealed a monoclonal spike of light chains (kappa). Biopsies of abdominal fat and bone marrow yielded normal results. The genetic study was compatible with a heterozygous Val30Met-transthyretin mutation. Very few case studies have described an association between familial amyloidotic polyneuropathy and monoclonal gammopathy. We stress that genetic confirmation is important regardless of the type of amyloid deposition revealed by the biopsy.

scholarly journals Very late-onset behavioral variant frontotemporal dementia

2013 ◽  
Vol 7 (1) ◽  
pp. 136-139
Author(s):  
Henrique Cerqueira Guimarães ◽  
Tatiana de Carvalho Espindola
Keyword(s):  
Case Report ◽  
Frontotemporal Dementia ◽  
Frontotemporal Lobar Degeneration ◽  
Clinical Presentation ◽  
Late Onset ◽  
Ground Level ◽  
Dementia Diagnosis ◽  
Behavioral Variant Frontotemporal Dementia ◽  
Genetically Determined ◽  
Late Onset Dementia

ABSTRACT Current concepts regarding frontotemporal lobar degeneration (FTLD) have evolved rapidly in recent years. Genetically determined FTLD cohorts have broadened our knowledge pertaining to its clinical presentation, neuroimaging findings and demographics. In this study we present a case report of a patient diagnosed with behavioral variant frontotemporal dementia diagnosis in her nineties during hospital admission for a ground-level fall. We believe this case reinforces the pervasive nature of this clinical entity, and may contribute to an increased awareness of this diagnostic possibility in late-onset dementia.

scholarly journals Fetal Growth Restriction – Diagnostic Work-up, Management and Delivery

2020 ◽  
Vol 80 (10) ◽  
pp. 1016-1025 ◽  
Author(s):  
Dietmar Schlembach
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Fetal Monitoring ◽  
Later Life ◽  
Growth Restriction ◽  
Growth Potential ◽  
Ductus Venosus ◽  
Optimum Approach ◽  
Diagnostic Work ◽  
Genetically Determined

AbstractFetal or intrauterine growth restriction (FGR/IUGR) affects approximately 5 – 8% of all pregnancies and refers to a fetus not exploiting its genetically determined growth potential. Not only a major cause of perinatal morbidity and mortality, it also predisposes these fetuses to the development of chronic disorders in later life. Apart from the timely diagnosis and identification of the causes of FGR, the obstetric challenge primarily entails continued antenatal management with optimum timing of delivery. In order to minimise premature birth morbidity, intensive fetal monitoring aims to prolong the pregnancy and at the same time intervene, i.e. deliver, before the fetus is threatened or harmed. It is important to note that early-onset FGR (< 32 + 0 weeks of gestation [wks]) should be assessed differently than late-onset FGR (≥ 32 + 0 wks). In early-onset FGR progressive deterioration is reflected in abnormal venous Doppler parameters, while in late-onset FGR this manifests primarily in abnormal cerebral Doppler ultrasound. According to our current understanding, the “optimum” approach for monitoring and timing of delivery in early-onset FGR combines computerized CTG with the ductus venosus Doppler, while in late-onset FGR assessment of the cerebral Doppler parameters becomes more important.

The Relationship between Genetic and Precipitating Factors in Depressive Illness

1972 ◽  
Vol 121 (560) ◽  
pp. 67-70 ◽  
Author(s):  
John Pollitt
Keyword(s):  
Index Case ◽  
Late Onset ◽  
Depressive Illness ◽  
Precipitating Factors ◽  
Single Episode ◽  
Depressed Patients ◽  
Manic Depressive ◽  
Close Relatives ◽  
Genetically Determined ◽  
The Relationship

Scientific studies of the families of depressed patients have shown that the risk of development of similar illnesses for close relatives is greater when the illness of the index case began relatively early in life than when it began later. These studies have included both manic-depressive and single episode endogeneous depressions, and no account has been taken of the mode of precipitation of the illnesses. It has been postulated that (a) the penetrance of the gene may be lower in those families with late onset of depression, and (b) that depressive illness may be of diverse aetiology, so that genetically determined forms appear earlier in life and those which are not genetically determined occur later (Hopkinson and Ley 1969).

scholarly journals Multifocal Keloids Associated with Mycobacterium fortuitum following Intralesional Steroid Therapy

2011 ◽  
Vol 3 (02) ◽  
pp. 127-129 ◽  
Author(s):  
Shailesh Kumar ◽  
Noyal Mariya Joseph ◽  
Joshy M Easow ◽  
Sivaraman Umadevi
Keyword(s):  
Soft Tissue ◽  
Steroid Injection ◽  
Late Onset ◽  
Mycobacterium Fortuitum ◽  
Soft Tissue Infections ◽  
Bacterial Cultures ◽  
Intralesional Steroid ◽  
Intralesional Steroid Injection ◽  
History Of ◽  
High Index Of Suspicion

ABSTRACTWe report a case of subcutaneous abscess formation with Mycobacterium fortuitum following intralesional steroid injection into multifocal keloids. A high index of suspicion of atypical mycobacteria infection is needed in patients with a history of skin and soft tissue infections, in particular late-onset infections, which are negative for routine bacterial cultures and without a clinical response to antibiotics used for acute pyogenic infections.

scholarly journals Donor-specific Antibodies, Immunoglobulin-free Light Chains, and BAFF Levels in Relation to Risk of Late-onset PTLD in Liver Recipients

2018 ◽  
Vol 4 (6) ◽  
pp. e353 ◽  
Author(s):  
Eric A. Engels ◽  
Linda W. Jennings ◽  
Matthew J. Everly ◽  
Ola Landgren ◽  
Kazunori Murata ◽  
...  
Keyword(s):  
Late Onset ◽  
Light Chains ◽  
Free Light Chains ◽  
Specific Antibodies ◽  
Donor Specific Antibodies

scholarly journals Persistent Infection Versus Type 2 Immunological Reaction in Lepromatous Leprosy

2020 ◽  
Vol 8 ◽  
pp. 232470962092788 ◽  
Author(s):  
Melinda B. Tanabe ◽  
Ashley Rae Group ◽  
Liliana Rincon ◽  
Barbara M. Stryjewska ◽  
Juan C. Sarria
Keyword(s):  
Skin Biopsy ◽  
Persistent Infection ◽  
Skin Lesions ◽  
Lepromatous Leprosy ◽  
Immunological Reaction ◽  
Hands And Feet ◽  
High Index Of Suspicion ◽  
Immunologic Reactions

The distinction between persistent infection and immunologic reactions in leprosy is often difficult but critically important since their management is different. We present the case of a 51-year-old Vietnamese female who presented in 2015 with areas of erythema and skin infiltration on face and chest, as well as edema on her hands and feet. Skin biopsy was consistent with lepromatous leprosy. She was treated with rifampin, clarithromycin, and levofloxacin for 2 years. Her lower extremity edema was attributed to type 2 immunological reaction for which she was started on prednisone and methotrexate, but she was lost to follow-up for 19 months. She presented with new skin lesions and pain on her extremities. New biopsies revealed an intense neutrophilic infiltrate in the dermis and acid-fast bacilli focally within cutaneous nerve twigs. As compared with the initial biopsy, the inflammatory infiltrates were diminished and the bacilli had a degenerating appearance. These findings were consistent with type 2 immunological reaction. The patient was treated with thalidomide with improvement in the appearance of the skin lesions. A follow-up biopsy showed lack of neutrophilic infiltrates and decreased number of bacilli. This case illustrates the importance of differentiating between persistent infection and immunologic reactions in leprosy. Clinicians should be aware of these complications. A high index of suspicion and accurate interpretation of skin biopsy results are essential for appropriate diagnosis.

IperCKemia asintomatica: la malattia di Pompe late-onset

2021 ◽  
Vol 24 (4) ◽  
pp. 105-108
Author(s):  
Elena Borelli ◽  
Maria Luisa Casciana ◽  
Claudia Salemi ◽  
Silvia Sordelli ◽  
Silvia Fasoli
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Late Onset ◽  
Neuromuscular Disorders ◽  
Molecular Genetic ◽  
Diagnostic Delay ◽  
Clinical Manifestations ◽  
Diagnostic Laboratory ◽  
Enzyme Replacement ◽  
High Index Of Suspicion

The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of clinical manifestations. Dried blood spot (DBS) screening test for acid α-glucosidase (AAG) enzyme activity was below normal levels and molecular genetic testing for AAG gene demonstrated pathogenic mutations. The diagnosis of late-onset Pompe disease (LOPD) was finally confirmed. Thanks to the early diagnosis, the child would be under close surveillance and would timely commence enzyme replacement therapy (ERT), improving the prognosis of the disease.<br> The diagnostic delay in patients with LOPD is still common, namely between about 5 and 30 years. Clinicians need a high index of suspicion to recognize this condition as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders.<br> Diagnostic laboratory tests are quite fast and reliable to detect the enzymatic deficiency and enzyme replacement therapy (ERT) is available and improves long-term outcomes. Thus, it is of absolute importance that clinicians should consider the possibility of LOPD in patients who present with asymptomatic hyperCKemia.

The Application of SUDOSCAN for Screening Diabetic Peripheral Neuropathy in Chinese Population

2017 ◽  
Vol 126 (08) ◽  
pp. 472-477 ◽  
Author(s):  
Jiewen Jin ◽  
Weimin Wang ◽  
Tianwei Gu ◽  
Wei Chen ◽  
Jing Lu ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Autonomic Neuropathy ◽  
Skin Conductance ◽  
Roc Curve ◽  
Diabetic Peripheral Neuropathy ◽  
Asymmetry Ratio ◽  
Peripheral Neuropathies ◽  
Sensorimotor Polyneuropathy ◽  
Area Under Roc Curve ◽  
Hands And Feet

Abstract Purpose Diabetic peripheral neuropathies are the common chronic complications of diabetes, but the diagnosis is insensitive by physical examination in busy outpatients. Here we evaluated the performance of SUDOSCAN in screening diabetic peripheral neuropathies in Chinese type 2 diabetic patients. Methods The study enrolled 180 patients for annually screening. All patients underwent neurological symptoms assessment, clinical examination, nerve conduction studies and cardiovascular autonomic reflex tests. SUDOSCAN was tested and evaluated with electrochemical skin conductance in hands and feet, asymmetry ratio in hands and feet and predicted cardiac neuropathy. Results Patients enrolled had an average age of 56.1 years, 9.8 years of diabetic duration. Patients with diabetic sensorimotor polyneuropathy showed significantly lower electrochemical skin conductance in feet and higher asymmetry ratio in feet compared with those without. Sensitivity and specificity of asymmetry ratio in feet for diagnosing diabetic sensorimotor polyneuropathy were 88.2% and 46.9% and area under ROC curve was 0.713. Patients with cardiovascular autonomic neuropathy showed significantly lower electrochemical skin conductance in hands and feet, and higher asymmetry ratio in feet and predicted cardiac neuropathy compared with those without. Sensitivity and specificity of electrochemical skin conductance in feet in diagnosing cardiovascular autonomic neuropathy were 85.6% and 76.1% with an area under ROC curve of 0.859. Conclusions SUDOSCAN is a sensitive test to detect diabetic peripheral neuropathy in China and could be an effective screening tool in in busy outpatients and primary health care.

scholarly journals Adult Onset Systemic Carnitine Deficiency: Favorable Response to L-Carnitine Supplementation

1987 ◽  
Vol 14 (1) ◽  
pp. 50-54 ◽  
Author(s):  
M.D. Levitan ◽  
J.T. Murphy ◽  
W.G. Sherwood ◽  
J. Deck ◽  
G.M.J. Sawa
Keyword(s):  
Cardiac Involvement ◽  
Late Onset ◽  
Fatty Infiltration ◽  
Carnitine Deficiency ◽  
Muscle Fibres ◽  
Carnitine Supplementation ◽  
Adult Onset ◽  
High Index Of Suspicion ◽  
Systemic Carnitine Deficiency

Abstract:We report the case of a patient who at age 39 first developed an episode of muscle weakness and transient ketoacidosis with biopsy proven fatty infiltration of the liver. Over the next several years, myopathy ensued; biopsy revealed extensive deposition of lipid globules in type 1 muscle fibres. Further investigations established the diagnosis of systemic carnitine deficiency (SCD) with skeletal muscle, hepatic, and cardiac involvement. The patient has benefited from L-carnitine supplementation. Our case represents an unusually late onset of SCD and highlights the necessity, when appropriate, of a high index of suspicion of this rare but treatable disorder.

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