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1.
PLoS One ; 13(10): e0205601, 2018.
Article in English | MEDLINE | ID: mdl-30332452

ABSTRACT

INTRODUCTION: Since 2011 Médecins sans Frontières together with the eSwatini Ministry of Health have been managing patients with multi-drug resistant tuberculosis (MDR-TB) at Matsapha and Mankayane in Manzini region. This analysis describes the model of care and outcomes of patients receiving a 20 months MDR-TB treatment regimen between 2011 and 2013. METHOD: We conducted a retrospective observational cohort study of MDR-TB patients enrolled for treatment between May 2011 and December 2013. An extensive package of psychological care and socio-economic incentives were provided including psychological support, paid treatment supporters, transport fees and a monthly food package. Baseline demographic details and treatment outcomes were recorded and for HIV positive patient's univariate analysis as well as a cox regression hazard model were undertaken to assess risk factors for unfavorable outcomes. RESULTS: From the 174 patients enrolled, 156 (89.7%) were HIV co-infected, 102 (58.6%) were female, median age 33 years old (IQR: 28-42), 55 (31.6%) had a BMI less than 18 and 86 (49.4%) had not been previously treated for any form of TB. Overall cohort outcomes revealed a 75.3% treatment success rate, 21.3% mortality rate, 0.6% failure and 0.6% lost to follow-up rate. In the adjusted multivariate analysis, low BMI and low CD4 count at treatment initiation were associated with an increased risk of unfavorable outcome. CONCLUSIONS: A model of care that included psychosocial support and patient's enablers led to a high level of treatment success with a very low lost to follow up rate. Limiting the overall treatment success was a high mortality rate which was associated with advanced HIV and a low BMI at presentation. These factors will need to be addressed in order to improve upon the overall treatment success rate in future.


Subject(s)
Antitubercular Agents/therapeutic use , Patient-Centered Care , Tuberculosis, Multidrug-Resistant/epidemiology , Tuberculosis, Multidrug-Resistant/therapy , Adolescent , Adult , Coinfection , Disease Management , Eswatini , Female , HIV Infections/complications , HIV Infections/epidemiology , Humans , Male , Middle Aged , Patient-Centered Care/methods , Retrospective Studies , Risk Factors , Treatment Outcome , Tuberculosis, Multidrug-Resistant/economics , Tuberculosis, Multidrug-Resistant/psychology
2.
Neurogenetics ; 16(2): 77-95, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25501253

ABSTRACT

In the last two decades, migraine research has greatly advanced our current knowledge of the genetic contributions and the pathophysiology of this common and debilitating disorder. Nonetheless, this knowledge still needs to grow further and to translate into more effective treatments. To date, several genes involved in syndromic and monogenic forms of migraine have been identified, allowing the generation of animal models which have significantly contributed to current knowledge of the mechanisms underlying these rare forms of migraine. Common forms of migraine are instead posing a greater challenge, as they may most often stem from complex interactions between multiple common genetic variants, with environmental triggers. This paper reviews our current understanding of migraine genetics, moving from syndromic and monogenic forms to oligogenic/polygenic migraines most recently addressed with some success through genome-wide association studies. Methodological issues in study design and future perspectives opened by biomarker research will also be briefly addressed.


Subject(s)
Migraine Disorders/genetics , Animals , Genetic Predisposition to Disease , Humans
3.
Abdom Imaging ; 31(6): 706-9, 2006.
Article in English | MEDLINE | ID: mdl-16465568

ABSTRACT

Hepatic portal venous gas is an uncommon clinical condition that is often characterized by acute onset of abdominal pain and is associated with a high rate of mortality despite clinical and/or surgical treatment. Radiologic diagnosis is important and usually includes abdominal radiography, ultrasound, and computed tomography. We describe the clinical, computed tomographic, and angiographic data of a patient with sigmoid diverticulitis who developed a massive embolism of the intra- and extrahepatic portal systems due to an enterovascular fistula and was treated with fistula embolization and subsequent sigmoidectomy.


Subject(s)
Diverticulitis/complications , Embolism, Air/diagnostic imaging , Mesenteric Veins/diagnostic imaging , Portal Vein/diagnostic imaging , Adult , Colon, Sigmoid/diagnostic imaging , Diagnosis, Differential , Diverticulitis/diagnostic imaging , Embolism, Air/therapy , Embolization, Therapeutic , Esophageal and Gastric Varices/diagnostic imaging , Esophageal and Gastric Varices/therapy , Humans , Male , Tomography, X-Ray Computed
4.
Neurogenetics ; 5(4): 245-8, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15490286

ABSTRACT

Haptoglobin is a polymorphic protein that is well known for its hemoglobin (Hb)-binding property. The protein shows gross differences in molecular size among genotypes, resulting in different degrees of diffusion in central nervous system tissue. Since the breakdown of erythrocytes in the intracerebral fluid results in Hb-mediated free OH radical formation, lipid peroxidation, and increased neuronal excitability, a differential diffusion of haptoglobin phenotypes in the intracerebral fluid might result in a different degree of protection from oxidative damage. We have studied two samples of children with idiopathic generalized epilepsy from two different Italian populations. In both samples the haptoglobin *1/*1 genotype is much less represented in epileptic children than in controls. These observations suggest that subjects carrying the Hp*1/*1 genotype, that has the lowest molecular size and diffuses more readily in the interstitial cerebral fluid, are more protected against idiopathic generalized epilepsy than those with other haptoglobin genotypes.


Subject(s)
Epilepsy, Generalized/genetics , Haptoglobins/genetics , Haptoglobins/metabolism , Polymorphism, Genetic , Adult , Antioxidants , Child , Child, Preschool , Epilepsy, Generalized/metabolism , Exons , Female , Genotype , Haptoglobins/chemistry , Humans , Infant , Male , Molecular Weight , Oxidative Stress/genetics
5.
J Neurol Neurosurg Psychiatry ; 74(5): 667-70, 2003 May.
Article in English | MEDLINE | ID: mdl-12700317

ABSTRACT

BACKGROUND: The neuroactive steroid 3alpha, 5alpha-tetrahydroprogesterone is the most potent endogenous positive modulator of gamma-amino-butyric acid (GABA)(A) receptors. There is evidence for a relation between neuroactive steroids and seizure susceptibility. OBJECTIVE: To evaluate the putative role of counteregulator neuroactive steroids in the occurrence of seizures in patients with tuberous sclerosis. METHODS: Plasma concentrations of the enantiomers 3alpha, 5alpha- and 3alpha, 5beta-tetrahydroprogesterone (3alpha(s)-THP), which are positive modulators of GABA(A) receptors, were measured in 18 patients, along with their endogenous functional antagonists 3beta, 5alpha- and 3beta, 5beta-THP (3beta(s)-THP), to assess their possible modification compared with control subjects. Neuroactive steroids were assayed using a highly sensitive and specific gas chromatographic/mass spectrometric method. RESULTS: In the tuberous sclerosis patients with poorly controlled seizures, there was a significantly lower 3alpha(s)/3beta(s)-THP ratio than in seizure-free patients or control subjects. CONCLUSIONS: The reduced 3alpha(s)/3beta(s)-THP ratio may decrease GABAergic tone, contributing to the appearance of seizures in tuberous sclerosis patients with epilepsy.


Subject(s)
Epilepsy/blood , Epilepsy/etiology , Pregnanolone/blood , Receptors, GABA-A/blood , Tuberous Sclerosis/blood , Tuberous Sclerosis/complications , Adolescent , Adult , Child , Child, Preschool , Disease Susceptibility/blood , Disease Susceptibility/physiopathology , Epilepsy/physiopathology , Female , GABA Antagonists/blood , GABA Modulators/blood , Humans , Infant , Isomerism , Male , Pregnanolone/physiology , Receptors, GABA-A/physiology , Tuberous Sclerosis/physiopathology
6.
Brain Dev ; 23(7): 502-7, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11701245

ABSTRACT

The high incidence of infantile spasms (IS) and hypsarrhythmia in tuberous sclerosis complex (TSC) has long been emphasized but it is now clear that infants with TSC show clinical and EEG differences from those with classical West syndrome. Seizures at onset are mainly characterized by partial motor seizures and IS. Subtle partial seizures may be present in the early neonatal period and may precede the onset of IS. Visual recording techniques have led to significant progress in the classification of seizures associated with TSC, demonstrating that they have a focal or multifocal origin in the vast majority of cases. In most cases, an awake interictal EEG shows focal or independent multifocal spike and slow-wave activity at onset and later a pseudo-hypsarrhythmic pattern. Ictal EEG starts with focal spikes originating from the posterotemporal, or occipital regions followed by a generalized irregular slow transient and an abrupt diffuse flattening. Although the pathophysiological mechanisms responsible for the coexistence of partial seizures and IS are still unclear, IS associated with TSC may be the result of a rapid secondary generalization. The presence of IS due to TSC is strongly predicted by the cortical tuber count, while the age of onset of seizures and the age of occurrence of EEG foci depend on the localization of cortical tubers with an earlier expression of the parieto-occipital than of the frontal regions. Early recognition of these distinctive features appears worthwhile for therapeutic and prognostic implications. Despite the efficacy of vigabatrin the prognosis of IS is generally poor. Studies using combined topographic mapping of EEG, magnetic resonance imaging and positron emission tomography may provide new strategies for selecting candidates suitable for surgery.


Subject(s)
Spasms, Infantile/complications , Tuberous Sclerosis/complications , Electroencephalography , Epilepsies, Partial/complications , Epilepsies, Partial/diagnosis , Epilepsies, Partial/physiopathology , Humans , Infant , Spasms, Infantile/diagnosis , Spasms, Infantile/physiopathology , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/physiopathology
7.
Brain Dev ; 23(7): 649-53, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11701271

ABSTRACT

Vigabatrin (VGB) was found to be an effective anti-epileptic drug to reduce infantile spasms in about 50% of patients and it has been found most effective in infantile spasms due to tuberous sclerosis (TSC) in which up to 95% of infants had complete cessation of their spasms. VGB was synthesized to enhance inhibitory gamma-aminobutyric acidergic (GABAergic) transmission by elevating GABA levels via irreversible inhibition of GABA transaminase. The mechanism underlying the particular efficacy of VGB in TSC is still unknown. However, its efficacy suggests that epileptogenesis in TSC may be related to an impairment of GABAergic transmission. VGB should be considered as the first line monotheraphy for the treatment of infantile spasms in infants with confirmed diagnosis of TSC. The efficacy of VGB treatment can be assessed in less than 10 days, but usually a few days treatment with a dose of about 100 mg/kg/day stops infantile spasms. The cessation of the spasms is associated with a marked improvement of behaviour and mental development. Unfortunately, it has become clear that the use of VGB is associated with a late appearance of visual-field defects in up to 50% of patients. Currently the minimum duration and doses of VGB treatment that can produce side effects are unknown. The feasibility of using short treatment periods (2-3 months) should be investigated.


Subject(s)
Anticonvulsants/therapeutic use , Tuberous Sclerosis/drug therapy , Vigabatrin/therapeutic use , Electroencephalography , Epilepsies, Partial/diagnosis , Epilepsies, Partial/drug therapy , Humans , Infant , Tuberous Sclerosis/diagnosis
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