The association of pulmonary hemosiderosis and celiac disease. Apropos of a new case in a child]

A new case of pulmonary hemosiderosis with coeliac disease is reported. This is an extremely rare combination of which only nine instances have been published over the last 20 years. Three of the reported cases occurred in children. Apart from a marked predominance of males, the combination has no specific features. Firm evidence of a causal relationship between the two diseases is lacking but treatment with a gluten-free diet alone apparently had beneficial effects on the lung disease in two patients. Three pathogenic hypotheses are discussed herein: deposition of circulating immune complexes involving food allergens on the basement membrane of alveolar capillaries; reaction between antireticulin antibodies and an alveolar basement membrane antigen; or effect of adenovirus 12, a potential causative factor for celiac disease. Patients with idiopathic pulmonary hemosiderosis should routinely have tests for gluten intolerance, for instance a lactulose-mannitol intestinal permeability test. Lastly, other concomitant food allergies are reported.     

The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalities

Retrognathia (recessed chin) and prognathism (prominent chin) often present as signs of an underlying condition. Accurate clinical definitions are important. Yet their definitions were according to “clinical impression”, or to seldom used X‐ray criteria. We propose a statistical and anthropometric definition of retrognathia and prognathism based upon the ratio between the goniomaxillar length (distance between the gonion at the mandible angle and the subnasale and the goniomandibular length (distance between the mandible angle and the most anterior point of the bony chin). We assumed that an increase in the ratio indicates retrognathia and a decrease reflects prognathism. We conducted a prospective, observational, anthropometric study in 204 consecutive healthy term infants. Measurements took place on the second day of life, using sliding calipers. Mean ± SD of goniomandibular length (5.1 ± 0.3 cm), goniomaxillar length (5.4 ± 0.3 cm), were calculated. All measurements correlated significantly with gestational age, and with infant birthweight. The mean ± SD goniomaxillar length/goniomandibular length ratio was 1.06 ± 0.05. We defined a normal ratio as being within 2 SD of the mean, that is, between 0.96 and and 1.16. This ratio correlated with neither gestational age nor with birthweight. We conclude that the goniomaxillar length/goniomandibular length ratio can be calculated whenever retro ‐ or prognathism is suspected. A ratio outside of the 95% confidence interval should help in making this diagnosis. An increase in this ratio beyond 2 SD above the mean (1.16) could be interpreted as retrognathia and a decrease beyond 2 SD below the mean (0.96) as prognathism.     

Phylogenomics of the dog and fox family (Canidae,Carnivora) revealed by chromosome painting

Canid species (dogs and foxes) have highly rearranged karyotypes and thus represent a challenge for conventional comparative cytogenetic studies. Among them, the domestic dog is one of the best-mapped species in mammals, constituting an ideal reference genome for comparative genomic study. Here we report the results of genome-wide comparative mapping of dog chromosome-specific probes onto chromosomes of the dhole, fennec fox, and gray fox, as well as the mapping of red fox chromosome-specific probes onto chromosomes of the corsac fox. We also present an integrated comparative chromosome map between the species studied here and all canids studied previously. The integrated map demonstrates an extensive conservation of whole chromosome arms across different canid species. In addition, we have generated a comprehensive genome phylogeny for the Canidae on the basis of the chromosome rearrangements revealed by comparative painting. This genome phylogeny has provided new insights into the karyotypic relationships among the canids. Our results, together with published data, allow the formulation of a likely Canidae ancestral karyotype (CAK, 2n = 82), and reveal that at least 6–24 chromosomal fission/fusion events are needed to convert the CAK karyotype to that of the modern canids. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Physical properties of hydrated tissue determined by surface interferometry of laser-induced thermoelastic deformation

Knee meniscus is a hydrated tissue; it is a fibrocartilage of the knee joint composed primarily of water. We present results of interferometric surface monitoring by which we measure physical properties of human knee meniscal cartilage. The physical response of biological tissue to a short laser pulse is primarily thermomechanical. When the pulse is shorter than characteristic times (thermal diffusion time and acoustic relaxation time) stresses build and propagate as acoustic waves in the tissue. The tissue responds to the laser-induced stress by thermoelastic expansion. Solving the thermoelastic wave equation numerically predicts the correct laser-induced expansion. By comparing theory with experimental data, we can obtain the longitudinal speed of sound, the effective optical penetration depth and the Grüneisen coefficient. This study yields information about the laser tissue interaction and determines properties of the meniscus samples that could be used as diagnostic parameters.     

Biology of desmoplastic melanoma: a case-control comparison with other melanomas.

PURPOSE: Previous studies have established that patients with desmoplastic melanoma (DM) have thicker primary tumors. Consequently, comparisons with other forms of melanoma have been strongly biased by differences in Breslow stage. This is the first case-matched control study comparing DM with other forms of melanoma. PATIENTS AND METHODS: From a database of 3,202 melanoma patients treated at one institution, 89 patients with DM and 178 case-matched control patients (2:1) were identified by matching for tumor thickness, age, sex, and year of diagnosis. Clinical, pathologic, and outcome information was obtained from chart review. RESULTS: Controls were matched successfully to patients for tumor thickness, age, sex, and year of diagnosis. Presentation with American Joint Committee on Cancer stage III or IV disease is less common in patients with DM compared to case-matched control patients (5% v 21%; P < .001). Re-excisions to obtain clear surgical margins are required more often in patients with DM compared to case-matched control patients (21% v 6%; P < .001). Risk of positive sentinel nodes is lower in patients with DM compared to case-matched control patients (8% v 34%; P = .013). Despite these differences, survival rates of patients with DM are the same as case-matched control patients. CONCLUSION: Use of case-matched control patients matched for tumor thickness avoids biases introduced by the advanced Breslow stage of DMs. DMs are more locally aggressive than thickness-matched controls, and positive sentinel nodes are limited to patients with thick primary tumors. Importantly, patients with DM have survival rates similar to patients with other melanomas of similar thickness.     

Monkeypox DNA levels correlate with virus infectivity in clinical samples,Israel, 2022

The current monkeypox virus global spread and lack of data regarding clinical specimens’ infectivity call for examining virus infectivity, and whether this correlates with results from PCR, the available diagnostic tool. We show strong correlation between viral DNA amount in clinical specimens and virus infectivity toward BSC-1 cell line. Moreover, we define a PCR threshold value (Cq ≥ 35, ≤ 4,300 DNA copies/mL), corresponding to negative viral cultures, which may assist risk-assessment and decision-making regarding protective-measures and guidelines for patients with monkeypox.     

Chronic auricular tachycardia with unusual response to change in posture: Report of two cases

Fine and Miller,¹ in 1940, presented a bizarre case in which, over a period of several years, so-called “paroxysmal” auricular tachycardia was invariably present as long as the patient sat or stood erect, and more often than not also persisted during recumbency. The rate of the tachycardia varied markedly on change of position. Shortly after this report was submitted, a second case, which was strikingly similar in most respects to the previous one, came to our attention at the Newark Health Department. The coincidence of observing concurrently these two cases of a chronic form of auricular tachycardia with unusual response to change of posture leads us to believe that this condition may not be unique, but that similar cases may have escaped recognition.In the present communication we shall review both cases in detail, and attempt to delineate the symptom complex which distinguishes them.     

SENP5 mediates breast cancer invasion via a TGFβRI SUMOylation cascade

Identifying novel mechanisms, which are at the core of breast cancer biology, is of critical importance. Such mechanisms may explain response to treatment, reveal novel targets or drive detection assays.To uncover such novel mechanisms, we used survival analysis on gene expression datasets encompassing 1363 patients. By iterating over the compendia of genes, we screened for their significance as prognosis biomarkers and identified SUMO-specific protease 5 (SENP5) to significantly stratify patients into two survival groups across five unrelated tested datasets. According to these findings, low expression of SENP5 is associated with good prognosis among breast cancer patients.Following these findings, we analyzed SENP5 silencing and show it is followed by inhibition of anchorage-independence growth, proliferation, migration and invasion in breast cancer cell lines. We further show that these changes are conducted via regulation of TGFβRI levels. These data relate to recent reports about the SUMOylation of TGFβRI. Following TGFβRI changes in expression, we show that one of its target genes, MMP9, which plays a key role in degrading the extracellular matrix and contributes to TGFβ-induced invasion, is dramatically down regulated upon SENP5 silencing.This is the first report represents SENP5-TGFβ-MMP9 cascade and its mechanistic involvement in breast cancer.     

Lipoid pneumonia: a preventable form of drug-induced lung injury

We report a case where recurrent "pneumonia" was eventually diagnosed as lipoid pneumonia in an elderly patient with cerebrovascular disease. The discontinuation of paraffin oil laxative led to clinical improvement. Lipoid pneumonia, a foreign body-type reaction to the presence of lipid within lung parenchyma, is probably underdiagnosed and underreported, and paraffin oil laxative is the main causative agent. Paraffin oil is marketed as a food additive, and no information about its hazards is provided to clinicians or patients. We suggest that a change in paraffin oil licensing may decrease the incidence of lipoid pneumonia.     

Pulmonary function indices in children with sickle cell anemia in Enugu,south-east Nigeria

Objectives:

To determine the pulmonary function indices of children with sickle cell anemia (SCA) attending the pediatric sickle cell clinic at the University of Nigeria Teaching Hospital, Enugu, south-east Nigeria and to compare these indices with the results obtained from other regions.

Methods:

A case control study of lung function in children with SCA aged 6-20 years. The study was carried out in the University of Nigeria/University of Nigeria Teaching Hospital, Enugu State, Nigeria between October 2014 and January 2015. Measurements of the peak expiratory flow rate, forced vital capacity (FVC), and forced expiratory volume in one second (FEV1) were evaluated.

Results:

A total of 80 subjects were recruited into the study, comprising 40 homozygous HbSS (hemoglobin SS) patients and an equal number of controls. Children with SCA had statistically lower values of FEV1 (1.6±0.52), FVC (1.76±0.95), and peak expiratory flow rate (PEFR) (309.00±82.64) when compared with normal hemoglobin genotype FEV1 (12.01±0.53), FVC (2.12±0.54), and PEFR (364.10±87.85). The mean FVC, FEV1/FVC, and PEFR were also higher in the male control group compared with the HbSS male group, but these differences were not statistically significant. Female controls had significantly larger FEV1, FVC, and PEFR values compared with the HbSS females.

Conclusion:

The lung function indices were significantly lower in children and adolescents with SCA compared with the matched controls with a hemoglobin genotype AA.Sickle cell anemia (SCA) is a genetic hematological disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape.1 This hereditary disorder contributes the equivalent of 3.4% mortality in children aged <5 years worldwide or 6.4% in Africa.2 The prevalence of SCA in Nigeria ranges from 0.4-3%.3 Approximately 85% of sickle cell disorders and >70% of all affected births occur in Africa.4 It is worth noting that at least 5.2% of the world population carry a significant trait. The clinical consequence of SCA results from obstruction of the microvasculature by the sickle cells and red blood cell hemolysis, which causes multi-systemic manifestation. The lungs are affected in a variety of ways by these pulmonary insults, and recurrence overtime may leave the lungs with chronic interstitial, parenchymal, or vascular damage that compromises pulmonary function.5,6 It has been documented that the prevalence of hypoxemia among SCA children was 13%.4 This prevalence was attributable to the chronic anemic state, micro vascular occlusion of the circulation by sickle hemoglobin, and constant pertubation of the endothelial membrane, and consequent elaboration of endothelial molecules, which are commonly seen among SCA children, especially those with various types of vaso-occlusive episodes.7 This is defined as bone and joint pain or multiple sites of pain needing analgesics or hospitalization.8 Acute and chronic pulmonary complications occur frequently in patients with SCA, and contribute to morbidity and mortality later in life. Although the pathogenesis of chronic pulmonary disease in sickle cell disease (SCD) has not been clearly defined, recurrent microvascular obstruction resulting in the development of pulmonary hypertension, endothelial dysfunction, and parenchymal fibrosis are probably the primary mechanisms.6 There is increasing evidence that repeated episodes of acute chest syndrome (ACS) may cause permanent damage to the pulmonary parenchyma and vasculature. Repeated attacks of ACS are a major risk factor for the development of sickle cell chronic lung disease. Studies of lung function in SCD have also demonstrated a restrictive defect,8,9 while a reduction in the total lung capacity (TLC) of 50% has been reported in advanced forms. Acute chest syndrome refers to a spectrum of pulmonary pathology having in common, chest pain, fever, dyspnea with abnormal clinical, and radiologic chest signs as well as leucocytosis.10,11 It is the most common cause of death in children with sickle cell anemia over 10 years of age.12 The etiology of ACS is not clear, lung and bone infarction, infection, and acute pulmonary sequestration, among other possible causes have been proposed.10 In children with sickle anemia in steady state, the major abnormality in pulmonary function is a restrictive pathology, characterized by a slight decrease in total lung capacity, with attendant ventilation perfusion mismatch.10 This can cause a defect in diffusion capacity for carbon monoxide.10 These abnormalities worsen with age and are associated with increases in pulmonary-artery pressures.11 Whereas some studies have documented impaired lung function in SCA (hemoglobin SS) patients,8-10 previous studies8-10 reported what appears to be contrasting findings when the lung function in children with SCA and those of healthy controls with normal hemoglobin genotype were compared. It is therefore necessary that ventilatory function studies be undertaken in this parts of the world to see if there is any difference with known values in other part of the world. In this study, we determine the impact of SCA on the pulmonary function indices in patients attending the pediatric sickle cell clinic at the University of Nigeria Teaching Hospital (UNTH) Enugu, south-east Nigeria and compare it with matched controls and other studies. Many studies have described and assessed the pattern of pulmonary function in SCD from childhood to adulthood, but much is not known on this topic in South Eastern Nigeria. Most of the original studies are from western Nigeria.13,14 This study could therefore corroborate or refute regional or ethnic differences in lung function in children with SCD. The study hypothesis seeks to answer the following questions? Do children with SCA attending UNTH Enugu present with any alteration in lung function? If they do, is there any gender and age difference? Are these lung volume findings similar to that obtained from other region?