Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients

2020 ◽  
Vol 51 (05) ◽  
pp. 349-353
Author(s):  
Fahmi Nasrallah ◽  
Sameh Hadj-Taieb ◽  
Amel Ben Chehida ◽  
Awatef Jelassi ◽  
Sana Ben Massoued ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Disease Onset ◽  
Exchange Chromatography ◽  
First Line ◽  
Biochemical Tests ◽  
Feeding Difficulties ◽  
Life Threatening ◽  
History Of ◽  
Nonketotic Hyperglycinemia

Abstract Aim The aim of the study is to report on epidemiological, clinical, and biochemical characteristics of nonketotic hyperglycinemia (NKH) in Tunisia. Methods Patients diagnosed with NKH in Laboratory of Biochemistry at Rabta hospital (Tunis, Tunisia) between 1999 and 2018 were included. Plasma and cerebrospinal fluid (CSF) free amino acids were assessed by ion exchange chromatography. Diagnosis was based on family history, patient's clinical presentation and course, and increased CSF to plasma glycine ratio. Results During 20 years, 69 patients were diagnosed with NKH, with 25 patients originating from Kairouan region. Estimated incidences were 1:55,641 in Tunisia and 1:9,684 in Kairouan. Consanguinity was found for 73.9% of the patients and 42% of the families have history of infantile death due to a disease of similar clinical course than the propositus. Clinical symptoms initiated within the first week of life in 75% of the patients and within the first 3 months in 95.7% ones. The phenotype was severe in 76.8% of the patients. Main symptoms were hypotonia, feeding difficulties, coma, apnea, and seizures. Most patients died within few days to months following diagnosis. CSF to plasma glycine ratio was increased in all patients. CSF and plasma glycine levels were negatively correlated with age of disease onset and severity. Conclusion NKH is quite frequent in Tunisia. Kairouan region has the highest NKH incidence rate, worldwide. However, due to lack of confirmatory enzymatic and genetic tests, NKH diagnosis was based on first-line biochemical tests. Characterization of causal mutations is needed for accurate diagnosis and prenatal diagnosis of this devastating life-threatening disease.

scholarly journals Polymeric Nanocarriers: A Transformation in Doxorubicin Therapies

Materials ◽  
2021 ◽  
Vol 14 (9) ◽  
pp. 2135
Author(s):  
Kamila Butowska ◽  
Anna Woziwodzka ◽  
Agnieszka Borowik ◽  
Jacek Piosik
Keyword(s):  
Drug Delivery ◽  
Wide Spectrum ◽  
Stimuli Responsive ◽  
First Line ◽  
Medical Expenses ◽  
Polymeric Nanocarriers ◽  
Essential Properties ◽  
Life Threatening ◽  
History Of ◽  
Cancerous Cells

Doxorubicin, a member of the anthracycline family, is a common anticancer agent often used as a first line treatment for the wide spectrum of cancers. Doxorubicin-based chemotherapy, although effective, is associated with serious side effects, such as irreversible cardiotoxicity or nephrotoxicity. Those often life-threatening adverse risks, responsible for the elongation of the patients’ recuperation period and increasing medical expenses, have prompted the need for creating novel and safer drug delivery systems. Among many proposed concepts, polymeric nanocarriers are shown to be a promising approach, allowing for controlled and selective drug delivery, simultaneously enhancing its activity towards cancerous cells and reducing toxic effects on healthy tissues. This article is a chronological examination of the history of the work progress on polymeric nanostructures, designed as efficient doxorubicin nanocarriers, with the emphasis on the main achievements of 2010–2020. Numerous publications have been reviewed to provide an essential summation of the nanopolymer types and their essential properties, mechanisms towards efficient drug delivery, as well as active targeting stimuli-responsive strategies that are currently utilized in the doxorubicin transportation field.

scholarly journals Unusual dyspnea in a hemodialysis patient: A case report

10.3823/2607 ◽  
2019 ◽  
Vol 12 ◽  
Author(s):  
Ching-Hsiang Wang ◽  
Jenq-Shyong Chan ◽  
Chung-Chi Yang ◽  
Po-Jen Hsiao
Keyword(s):  
Hemodialysis Patient ◽  
Pleural Cavity ◽  
Middle Age ◽  
Clinical Symptoms ◽  
Rapid Development ◽  
Previous History ◽  
Final Diagnosis ◽  
Spontaneous Hemothorax ◽  
Life Threatening ◽  
History Of

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.

scholarly journals Forty Years of the Description of Brown Spider Venom Phospholipases-D

Toxins ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 164 ◽  
Author(s):  
Luiza Helena Gremski ◽  
Hanna Câmara da Justa ◽  
Thaís Pereira da Silva ◽  
Nayanne Louise Costacurta Polli ◽  
Bruno César Antunes ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Molecular Organization ◽  
Public Health Issue ◽  
Inflammatory Processes ◽  
History Of ◽  
Brown Spider ◽  
Hemolytic Toxin ◽  
North And South America ◽  
North And South

Spiders of the genus Loxosceles, popularly known as Brown spiders, are considered a serious public health issue, especially in regions of hot or temperate climates, such as parts of North and South America. Although the venoms of these arachnids are complex in molecular composition, often containing proteins with distinct biochemical characteristics, the literature has primarily described a family of toxins, the Phospholipases-D (PLDs), which are highly conserved in all Loxosceles species. PLDs trigger most of the major clinical symptoms of loxoscelism i.e., dermonecrosis, thrombocytopenia, hemolysis, and acute renal failure. The key role played by PLDs in the symptomatology of loxoscelism was first described 40 years ago, when researches purified a hemolytic toxin that cleaved sphingomyelin and generated choline, and was referred to as a Sphingomyelinase-D, which was subsequently changed to Phospholipase-D when it was demonstrated that the enzyme also cleaved other cellular phospholipids. In this review, we present the information gleaned over the last 40 years about PLDs from Loxosceles venoms especially with regard to the production and characterization of recombinant isoforms. The history of obtaining these toxins is discussed, as well as their molecular organization and mechanisms of interaction with their substrates. We will address cellular biology aspects of these toxins and how they can be used in the development of drugs to address inflammatory processes and loxoscelism. Present and future aspects of loxoscelism diagnosis will be discussed, as well as their biotechnological applications and actions expected for the future in this field.

Characterization of unresectable cholangiocarcinoma patients treated with or without chemoradiation.

2015 ◽  
Vol 33 (3_suppl) ◽  
pp. 403-403
Author(s):  
Jane Elizabeth Rogers ◽  
Van Nguyen ◽  
Graciela M. Nogueras-Gonzalez ◽  
Christopher H. Crane ◽  
Prajnan Das ◽  
...  
Keyword(s):  
Progression Free Survival ◽  
Median Number ◽  
Primary Objective ◽  
First Line ◽  
Dismal Prognosis ◽  
History Of ◽  
Mixed Histology

403 Background: Curative treatment for cholangiocarcinoma (CC) is surgical resection. Unfortunately, most CC patients (pts) present with unresectable disease in which gemcitabine plus platinum (GEM-P) chemotherapy is the mainstay of treatment (tx). Advanced CC has a dismal prognosis with 5-year survival reported at 5-10 %. Data regarding chemoradiation (CRT) in pts with unresectable CC (uCC) remains limited. Methods: We retrospectively reviewed uCC pts from 1/1/2009 to 7/31/2013. Primary objective: to evaluate the percentage of pts treated with CRT and the median number of chemotherapy cycles given prior to CRT. Secondary objectives: response to first-line tx, progression free survival (PFS) with or without CRT, overall survival (OS) with or without CRT, and duration of CRT control. Inclusion criteria: uCC diagnosis, received tx, and had follow-up at our institution. Exclusion criteria: pts who received liver-directed therapy other than CRT, mixed histology tumors, and a history of other malignancies. Results: 114 pts were included with 62% having intrahepatic CC. Disease control (DC) (response + stable disease) with first-line tx was 75% with 71% receiving GEM-P +/- erlotinib first-line. 65% of pts received CRT with a median of 6 chemotherapy cycles given prior to CRT. DC after CRT was 62% with a median duration of radiation control of 6.4 mths. Median PFS and OS for all pts were 13.4 mths and 27.8 mths, respectively. Median PFS in the CRT group was 14.5 mths versus 11.4 mths in the no CRT group (p = 0.105). Median OS in the CRT cohort was 29.4 mths, while median OS without CRT was 22.4 mths (p = 0.005). Median OS and PFS after CRT for pts with DC on first-line tx were 32.0 months (95% CI = 24-44 mths) and 15.7 mths (95% CI =13.5-18.8 mths), respectively. Pts who progressed on first-line tx and received CRT had a median OS of 23.8 mths (95% CI = 7-30 months) and median PFS of 4.2 mths (95% CI = 2.3-9 mths). Conclusions: Our retrospective review reveals a significant improvement in median OS with CRT in uCC pts. Those with DC on first-line tx showed improvement in PFS and OS with CRT. Patient selection is key with the benefit being highest in pts with DC with first-line tx. Our results warrant further investigation of the role of CRT in uCC.

scholarly journals IgG Anti-Toxoplasma pada Cairan Otak Pasien Terinfeksi HIV dan AIDS dengan Meningitis

2018 ◽  
Vol 1 (1) ◽  
Author(s):  
Yunilda Andriyani ◽  
Agnes Kurniawan ◽  
Ika Puspa Sari ◽  
Retno Wahyuningsih
Keyword(s):  
Clinical Diagnosis ◽  
Predictive Value ◽  
Medical Records ◽  
Clinical Symptoms ◽  
Aids Patients ◽  
Significant Difference ◽  
Life Threatening ◽  
History Of ◽  
Weak Negative Correlation ◽  
End Stage

Toksoplasmosis diperkirakan telah menginfeksi sepertiga populasi dunia dan dapat mengancam jiwa pasien dengan imunokompromi. Ensefalitis toksoplasma (ET) terjadi akibat reaktivasi infeksi laten T. gondii yang sering terjadi pada pasien AIDS, terutama stadium akhir. Untuk menegakkan diagnosis pasti pada pasien AIDS dengan kelainan SSP sangatlah sulit. Diagnosis ET ditegakkan hanya berdasarkan asumsi dari gejala klinis, gambaran radiologi, dan respon terhadap terapi yang diberikan. Pemeriksaan kadar IgG dari cairan organ masih jarang dilakukan. Sampel cairan otak diperoleh dari 50 pasien HIV dan AIDS yang dikumpulkan sejak Januari 2013 hingga 2014 di Laboratorium Parasitologi FKUI. Kadar CD4+, gejala klinis, hasil radiologi, diagnosis klinis, riwayat terapi profilaksis ko-trimoksazol, dan analisis cairan otak, diperoleh dari rekam medik.Dari 50 sampel, diperoleh hasil 24 (48%) positif dan 26 (52%) negatif IgG anti-Toxoplasma. Dari IgG positif, terdapat 5 (20,83%) dengan kadar tinggi, dan 19 (79,17%) dengan kadar IgG rendah. Tidak ada perbedaan bermakna antara kadar IgG antiToxoplasma dengan hasil radiologi, diagnosis klinis, maupun riwayat terapi profilaksis ko-trimoksazol. Diperoleh korelasi negatif antara kadar CD4+ dan IgG anti-Toxoplasma, walaupun kekuatannya sangat lemah. Berdasarkan hasil radiologi, diperoleh sensitivitas 56%, spesifisitas 57%, nilai duga positif 41%, dan nilai duga negatif 71%. Toxoplasmosis is estimated to infect a third of the world's population and can be life-threatening to human immunocompromised system . Toxoplasma Encephalitis (TE) is caused by reactivation of latent T. gondii infection that often occurs in AIDS patients especially those with end-stage . To establish a definite diagnosis in AIDS patients with Central Nervous System (CNS)disorders is very difficult. The diagnosis of TE is only based on the assumptions of clinical symptoms, radiological features, and responses to the therapy given. Examination of IgG levels from organ fluids is still rare. CSF samples were taken from 50 HIV/AIDS patients collected from January 2013 to 2014 at the Parasitology Laboratory at FKUI (Medical Departement of University of Indonesia). CD4 levels, clinical symptoms, radiological results, clinical diagnosis, history of co-trimoxazole prophylaxis, and SCF analysis were obtained from medical records. The results showed that IgG-anti Toxoplasma was positive in 24 patients (48%) and negative in 26 patients (52%). From the positive IgG, there were 5 patients(20.83%) with high IgG levels, and 19 patients(79.17%) with low IgG levels. There was no significant difference between the levels of IgG anti-toxoplasma and the results of radiology, clinical diagnosis, and a history of co-trimoxazole prophylactic therapy. There was a weak negative correlation between CD4 + and IgG anti-Toxoplasma levels, The results of radiology showed values of sensitivity 56%, specificity 57%, positive predictive value 41%, and negative predictive value 71%.

scholarly journals DIAGNOSTIC CRITERIA AND CLINICAL COURSE OF ATOPIC DERMATITIS IN ADULTS

2021 ◽  
pp. 8-12
Author(s):  
O. D. Aleksandruk
Keyword(s):  
Atopic Dermatitis ◽  
Family History ◽  
Diagnostic Criteria ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Disease Onset ◽  
Adult Patients ◽  
Adult Age ◽  
History Of ◽  
Minor Criteria

Objective: to analyze Atopic dermatitis (AD) diagnostics criteria routinely used for diagnosis as well as common findings and history in adult patients with different age of onset of the disease. Materials and methods. 123 adult patients aged between 18 and 58 years with AD relapse were examined. The diagnosis was confirmed according to Ukrainian guidelines on AD. The patients were randomized in 2 groups depending on AD age of onset: 67 patients had AD start in early childhood and puberty, 56 patients – in adulthood. Precise medical history of the patients, clinical symptoms were collected. The disease severity was evaluated with SCORAD index and itch severity scale. Results were analyzed using parametric and nonparametric statistical tools. Results. Depending on age of AD onset patients demonstrated some differences in diagnostic criteria positivity, past and actual clinical features of the disease, cooperation with health system specialists. Among major AD diagnostic criteria personal or family history of atopy and flexural lichenification in adults were detected as variable signs of the disease depending on age of onset. Family history of atopy stayed hidden information for part of the patients and could not be verified. The most often minor criteria detected positive and used for AD diagnosis in adults were xerosis, itching when sweating, facial pallor or erythema and white dermographism, with their different frequency among groups. 17,9% of cases in childhood and 25% of cases in adults were not initially recognized as AD and managed as another skin disease for months or years. Skin itch as constant sign of AD is provoked by different triggered with high prevalence of emotional stress in adult-onset AD and different frequency of contact triggers among groups. Emotional trauma was considered by the patients as a major trigger of mild relapses in adult-age AD and moderate relapses in early-age AD. Constant and severe xerosis was more common for patients with AD onset in childhood and was mostly not a significant impacting issue for adult-aged AD. Secondary pyoderma accompanies AD relapses of both groups. 100% of examined patients had experience of self-treatment with topical and systemic medications. Physical modalities of treatment (sunbathing, change of climate etc.) are less often of adult-age AD patients’ choice and provide good results more for early onset AD patients. Steroid-phobia was observed in patients with early disease onset only and is not an issue for adult-age AD patients. Conclusions. Diagnostic criteria stay an important tool for diagnosing AD. Adult patients may demonstrate different set of positive major and minor criteria depending on time of the disease onset. Established diagnosis of AD may not correspond to first manifestation of the disease that is possible both in childhood and adult patients. Prognosing of AD course in adults may depend on general duration of the disease: starting in childhood AD more often has seasonal relation, constant xerosis, irritation by sweeting; patients have long experience of moisturizers and physical treatments use. If started in adulty AD more often aggravates due to emotional and occupational triggers, then others; long-term use of moisturizers more probably would be neglected by the patient.

scholarly journals Recurrent Pregnancy Induced Pemphigus Vulgaris: A Rare Case Report

2020 ◽  
Vol 12 (3) ◽  
pp. 92-96
Author(s):  
Irsalina Husna Azwir ◽  
Khairuddin Djawad ◽  
Nurelly N. Waspodo ◽  
Asnawi Madjid
Keyword(s):  
Case Report ◽  
Fetal Death ◽  
Pemphigus Vulgaris ◽  
Intrauterine Fetal Death ◽  
First Line ◽  
Systemic Corticosteroids ◽  
Rare Case Report ◽  
Life Threatening ◽  
History Of ◽  
Great Resolution

Abstract Pemphigus vulgaris is a potentially life-threatening bullous autoimmune disease that can be triggered by various factors, one of which is pregnancy. Cases of pregnancy induced pemphigus are rare, and can result in devastating outcomes, both from the maternal or fetal perspectives if not treated promptly and adequately. The use of systemic corticosteroids is paramount to improve the outcome of the patient and fetus and it is a first-line treatment for the disease. Patients with a history of pemphigus should plan their pregnancies carefully, taking into consideration a minimum of 6 months remission before conception. This case report is about a 28-year-old woman with a history of pemphigus vulgaris that did not seek medical treatment of her pemphigus, which resulted in the intrauterine fetal death. The patient was treated with systemic corticosteroids and achieved great resolution to her blisters and overall wellbeing.

Management of the common European viper’s bite

2011 ◽  
Vol 152 (41) ◽  
pp. 1661-1665 ◽  
Author(s):  
Ágnes Sziray ◽  
Zsuzsánna Károlyi
Keyword(s):  
Clinical Symptoms ◽  
Hydrolytic Enzymes ◽  
Poison Control ◽  
Small Children ◽  
Control Centre ◽  
Life Threatening ◽  
History Of ◽  
Poison Control Centre ◽  
The Common ◽  
Professional Care

The common European viper is widespread throughout Europe. In Hungary it can be found mainly in the Zemplén Mountains, on the upper course of the Tisza River, and Zala and Somogy counties. Viper’s bite is one of the rarest injuries that requires emergency medical care. The venom contains polypeptides and hydrolytic enzymes which have neurotoxic, cytotoxic, hemolytic and hemorrhagic effects. Local symptoms may include double points, pain, swelling, and suffusion at the site of the bite. Very occasionally, particularly in case of small children and elderly people, viper bite can cause life threatening angioedema, as well as shock and, therefore, professional medical help should always be sought preferably in a hospital that has a toxicology and poison control centre. Authors present the history of a 64-year-old nature loving man, who, after having been bitten by a viper, lost his conscious and experienced persistent local redness and pain. Soon after the viper bite the patient suffered an other potentially fatal accident, a stroke of lightning that he also survived. In connection with the case, authors provide an overview of the clinical symptoms caused by viper venom, and current issues of professional care. Orv. Hetil., 2011, 152, 1661–1665.

Epidemiological, Clinical and Paraclinical Study of the Reported Cases of Tuberculosis in Qaemshahr (2010-2017)

2020 ◽  
Author(s):  
Farhang Babamahmoudi ◽  
Alireza Razavi ◽  
Amirhossein Hessami ◽  
Foroogh Heydari ◽  
Mohsen Hosseinzadegan ◽  
...  
Keyword(s):  
Rural Areas ◽  
Urban Areas ◽  
Clinical Symptoms ◽  
Underlying Disease ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Radiographic Findings ◽  
Life Threatening ◽  
History Of ◽  
Demographical Data

Introduction: Tuberculosis (TB) is a chronic, life-threatening, and contagious infectious. This study aimed to evaluate the epidemiological, clinical, and paraclinical findings of TB in Qaemshahr.Material and Methods: In this descriptive cross-sectional study, we investigated all patients with TB who had registered and existing data from 2010 to 2017. Demographical data, clinical and paraclinical characteristics including family history of disease, disease type (pulmonary and extrapulmonary), smear and culture results, underlying disease, chest X-ray results were extracted from records. Data were collected and analyzed using SPSS version 22.Results: Out of 290 patients, 61.4% were male (178 cases), and 38.6% (112 cases) were female. The mean age was 21.75 ± 21.25 years. 70.7% were pulmonary, and 29.3% were extrapulmonary. 60.3% were in urban areas and 39.7% in rural areas. The largest organ involved was lung (70.7%). 95.5% were diagnosed as new. The smear was negative in 53.8% of patients. 44.8% of patients were smear-positive. The culture result was positive in 54.5% of patients with TB. In the case of bronchoalveolar lavage (BAL), smear, 11.7% of patients had a positive result. The negative result of BAL smear was observed in 88.3% of cases.Conclusion: Awareness of various forms and clinical symptoms, radiographic findings in people with TB help to early detection of the disease.

Unusual Cerebral Involvement of Rheumatoid Arthritis Mimicking a Tumor

2020 ◽  
Vol 16 (2) ◽  
pp. 145-148
Author(s):  
Sevil Tokdemir ◽  
Huseyin Toprak ◽  
Alpay Alkan
Keyword(s):  
Rheumatoid Arthritis ◽  
Unusual Case ◽  
Clinical Symptoms ◽  
Cns Involvement ◽  
Contrast Administration ◽  
Life Threatening ◽  
History Of ◽  
Brain Involvement ◽  
Minimal Contrast

Background: The central nervous system’s involvement in Rheumatoid Arthritis (RA) is infrequent and can be life-threatening. Mass-like CNS involvement is an unusual presentation. A 45 year old man had suffered seropositive rheumatoid arthritis for five years referred to our hospital with one-week history of right-sided facial paralysis, left hemiparesis and headache. Discussion: MRI demonstrated hyperintense mass-like lesion extended from mesencephalon to right hippocampus and basal ganglia on T2 and FLAIR images. On DWI, restricted diffusion was not present. After contrast administration, minimal contrast enhancement was noted. After methotrexate and steroid treatment, the size had been markedly shrunken on the follow-up images. The clinical symptoms were also improved. Conclusion: To our knowledge, the mass-like presentation was not reported in the literature. We report an unusual case of brain involvement of rheumatoid arthritis mimicked tumor

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