Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis: An important cause of hypoglycemia in children

Objectives:To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies.Methods:This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Results:Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene.Conclusion:Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies.     

Indirect effects of cigarette butt waste on the dengue vector Aedes aegypti (Diptera: Culicidae)

Despite major insecticide-based vector control programs, dengue continues to be a major threat to public health in urban areas. The reasons for this failure include the emergence of insecticide resistance and the narrowing of the spectrum of efficient products. Cigarette butts (CBs), the most commonly discarded piece of waste, also represent a major health hazard to human and animal life. CBs are impregnated with thousands of chemical compounds, many of which are highly toxic and none of which has history of resistance in mosquitoes. This study was performed to examine whether exposure to CB alters various biological parameters of parents and their progeny. We examined whether the mosquito changes its ovipositional behaviors, egg hatching, reproductive capacity, longevity and fecundity in response to CB exposure at three different concentrations. Females tended to prefer microcosms containing CBs for egg deposition than those with water only. There were equivalent rates of eclosion success among larvae from eggs that matured in CB and water environments. We also observed decreased life span among adults that survived CB exposure. Extracts of CB waste have detrimental effects on the fecundity and longevity of its offspring, while being attractive to its gravid females. These results altogether indicate that CB waste indirectly affect key adult life traits of Aedes aegypti and could conceivably be developed as a novel dengue vector control strategy, referring to previously documented direct toxicity on the larval stage. But this will require further research on CB waste effects on non-target organisms including humans.     

Short telomeres in an oral precancerous lesion: Q-FISH analysis of leukoplakia

J Oral Pathol Med (2012) 41 : 372–378 Objectives: A precancerous condition is a lesion that, if left untreated, leads to cancer or can be induced to become malignant. In the oral region, leukoplakia is a lesion that has been regarded as precancerous. In cases of oral carcinoma, we have frequently noticed that a type of leukoplakia histologically demonstrating hyper‐orthokeratosis and mild atypia (ortho‐keratotic dysplasia; OKD) is often associated with carcinoma, either synchronously or metachronously. Therefore, we consider OKD‐type leukoplakia to be a true precancerous lesion. Materials and Methods: In an attempt to clarify the relationship between OKD as a precancerous condition in the oral mucosa and telomere length, we estimated telomere lengths in this type of leukoplakia using quantitative fluorescence in situ hybridization, and also quantified the frequency of anaphase–telophase bridges (ATBs) in comparison with squamous cell carcinoma in situ (CIS) and the background tissues of CIS and OKD. Results: Ortho‐keratotic dysplasia was frequently associated with squamous cell carcinoma (45.0%) and showed significantly shorter telomeres than normal control epithelium, CIS, or the background of CIS or OKD. The frequency of ATBs was much higher in OKD than in control epithelium or CIS. Conclusion: Ortho‐keratotic dysplasia appears to be frequently associated with carcinoma, chromosomal instability, and excessively shortened telomeres, not only in the lesion itself but also in the surrounding background. Therefore, when this type of leukoplakia is recognized in the oral region, strict follow‐up for oral squamous cell carcinoma is necessary, focusing not only on the areas of leukoplakia, but also the surrounding background.     

Role of ATP and adenosine on carotid body function during development

The carotid body is the main peripheral oxygen sensor involved in cardio-respiratory control under both normoxic and hypoxic conditions. This review focuses on data from newborn animals related to the involvement of the purinergic system in carotid body function during development. We describe the potential effects mediated by ATP and adenosine receptors on ventilation, chemoreceptor activity and their influence on respiratory instability, such as apnea. The conclusions that appear from this review is that in newborn rats, activation of ATP receptors increases the carotid body function although with no age dependent manner, regulates breathing under normoxia, and enhances the initial increase in ventilation in response to hypoxia (likely reflecting carotid body responses). However, activation of adenosine receptors may play a role on carotid body function under chronic conditions, such as intermittent hypoxia or exposure to the adenosine receptor antagonist caffeine. Under the later conditions, an indirect effects involving the carotid body dopaminergic system are observed.     

Clinical Outcome of Acute Upper Gastrointestinal Hemorrhage among Patients Admitted to a Government Hospital in Egypt

Background/Aim:

Acute upper gastrointestinal hemorrhage (AUGIH) is a life-threatening emergency that results in high morbidity and mortality. The mortality rate varies between 4% and 14%. The aim of the study was to determine the clinical outcome of AUGIH among patients admitted to a government hospital in Egypt.

Patients and Methods:

This was a cross-sectional hospital-based study performed in 1000 patients presenting with AUGIH over a 7-year period between January 2004 and January 2011.

Results:

One thousand patients were analyzed. Fifty-four percent were male. Mean age was 52 ± 17 years. Eighty-eight percent were emergency admissions and 12% were inpatients at the time of bleeding. At presentation 68% had major comorbidity and 50% had liver disease. Seven hundred and twenty-four patients (72%) underwent endoscopy. Bleeding varices accounted for 31% of AUGIH and peptic ulcer 28%. Two hundred and thirty-two patients had endoscopically diagnosed bleeding varices or peptic ulcer with a visible vessel or active bleeding. These received endoscopic therapy. Initial hemostasis was achieved in 207 (89%). Thirteen patients (6%) had therapy at a subsequent endoscopy for further bleeding. Surgery was performed on 9 patients (0.9%) with AUGIH. Complications were reported in 70 patients (7%) mainly liver failure (4%). Six hundred and eighty-four patients (68%) were discharged improved, 162 (16%) left hospital without a diagnosis and 4 (0.4%) were referred to another facility. The overall mortality was 15%. Mortality was 24% in patients ≥60 years, 37% among inpatients, and 21% in those who had a major comorbidity. Mortality was 22% in patients who had liver disease and 9% in variceal bleeding.

Conclusion:

The most common cause of AUGIH was variceal in origin. Endoscopic therapy was successful in most cases. Mortality after AUGIH was particularly high among elderly patients, inpatients, and patients who had a major comorbidity, liver disease, and variceal bleeding.     

Levodopa‐induced dyskinesias in tyrosine hydroxylase deficiency

The objective of this study was to characterize levodopa (l‐ dopa)–induced dyskinesias in patients with tyrosine hydroxylase deficiency. Clinical observation was carried out on 6 patients who were diagnosed with tyrosine hydroxylase deficiency and were treated with escalating doses of l‐ dopa. All 6 patients showed l ‐dopa‐induced dyskinesias of variable intensity early in the course of treatment and regardless of the age of initiation. l ‐Dopa–induced dyskinesias were precipitated by increases in the dose of l ‐dopa and also by febrile illnesses and stress. They caused dysfunction and distress in 2 patients. The dyskinesias were improved by decreasing the l ‐dopa dose or by slowing its titration upward. Increasing the dose frequency was helpful in 2 patients, and introducing amantadine was helpful in another 2 patients. l ‐Dopa–induced dyskinesias are a common phenomenon in tyrosine hydroxylase deficiency. The current observations show that l‐ dopa–induced dyskinesias are frequent in a dopamine‐deficient state in the absence of nigrostriatal degeneration. Although l ‐dopa–induced dyskinesias in tyrosine hydroxylase deficiency are phenomenologically similar to those that occur in Parkinson's disease, they are different in a number of other respects, suggesting intrinsic differences in the pathophysiologic basis of l‐ dopa–induced dyskinesias in the 2 conditions. © 2013 Movement Disorder Society