Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension.

A boy presented with cough, breathlessness for 1 month, fever for 1 week with similar previous episodes without hospitalisation. He had generalised muscle wasting, acute chronic malnutrition and required immediate ventilation. Provisional diagnosis of recurrent pneumonia with failure to thrive was made. As serial chest X-rays showed recurrent lung collapse, congenital lung anomalies were ruled out. 2D-echocardiography showed pulmonary arterial hypertension. Workup for congenital immunodeficiency and cystic fibrosis was negative. There was no improvement in muscle mass despite total parenteral nutrition. He was noticed to have myopathic facies. History was reviewed when the mother reported reduced fetal movements in this pregnancy. The patient had low voice amplitude. Creatine kinase levels were normal. Muscle biopsy followed by whole exome sequencing identified frameshift duplication NM_020451.3(SELENON):c.249_250dupGG (p.Asp84Glyfs*17), thus, confirming diagnosis of SEPN1-related congenital myopathy (CM) with fibre-type disproportion. Respiratory system involvement was distracter, emphasising consideration of CM while evaluating persistent lung collapse with muscle wasting.

Prevalence of hepatopancreatic injury and clinical outcomes in patients with COVID-19 in USA.

BACKGROUND: (1) To determine the prevalence of hepatopancreatic injury in coronavirus disease 2019 (COVID-19) patients. (2) To correlate hepatopancreatic injury in COVID-19 with mortality, disease severity, and length of stay in this cohort. RESULTS: Forty-five thousand three hundred sixty patients were included in the analysis, 62.82% of which had either hepatic or pancreatic injury. There was a significant upward trend in transaminases, alkaline phosphatase, prothrombin time, bilirubin, lactate dehydrogenase, and lipase and a downward trend in albumin with an increase in disease severity. COVID-19-positive patients with hepato-pancreatic injury have a significantly higher mortality (OR 3.39, 95%CI 3.15-3.65) after controlling for the differences in age, sex, race/ethnicity, liver cirrhosis, and medication exposures. They also have increased disease severity (OR 2.7, 95%CI 2.5-2.9 critical vs mild/moderate; OR 1.4, 95% CI 1.3-1.5 severe vs mild/moderate) and longer hospital length of stay (2 days). CONCLUSION: COVID-19 can cause liver injury. Mortality, disease severity, and hospital length of stay are increased in COVID-19 patients with hepatopancreatic injury.

Renin-Angiotensin-Aldosterone System Blockers Prior to Hospitalization and Their Association With Clinical Outcomes in Coronavirus Disease 2019 (COVID-19).

OBJECTIVE: To determine the effect of angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs) use prior to hospitalization on clinical outcomes in coronavirus disease 2019 (COVID-19) patients. DESIGN: An observational retrospective cohort study from 178 hospitals from a large health system across the United States.  Patient population: Hospitalized patients (n=2726) with confirmed COVID-19 between January 1, 2020, and April 1, 2020. Main outcome(s) and measure(s): Outcomes during hospitalization, including disease severity by level of care, intensive care unit (ICU) admission, mechanical ventilator (MV) use, hospital length of stay, and in-hospital death. Patient demographics and comorbidities were also recorded. RESULTS: A total of 2,726 patients were included in the analysis. Three hundred ninety-eight (14.6%) patients were taking an ACEI, while 352 (12.9%) patients were taking an ARB prior to hospitalization. After adjusting for comorbidities, age, renal function, and severity of illness based on level of care, ACEI prior to admission was independently associated with decreased need for MV (odds ratio [OR] 0.56, p value 0.003) and mortality (OR 0.45, p value <0.001). Similarly, patients who took ARBs were less likely to require MV when compared to the non-renin-angiotensin-aldosterone system blockade (RAASb) group (7.4% vs 12.2%, p value 0.009, respectively). ARB prior to admission was also independently associated with decreased need for MV (OR 0.46, p value 0.001) and mortality (OR 0.66, p value 0.017) compared to the non-RAASb group. CONCLUSION: Taking ACEIs and ARBs prior to admission for COVID-19 was independently associated with decreased need for mechanical ventilation and in-hospital mortality.

Effect of the Use of Die Lubricant on the Marginal Fit of Wax Patterns.

The aim of this study was to evaluate the effect of die lubricant on the fit of wax patterns. An ivorine tooth was prepared to receive full-coverage metal-ceramic restoration with 360° shoulder finish line. The tooth was duplicated 40 times using additional silicone. The impression was poured with Type IV dental stone. These 40 dies were divided into 2 groups 20 each. Group A: The patterns were fabricated with the use of die lubricant. Group B: The patterns were fabricated without the use of die lubricant. Later, these patterns were sequentially checked for the marginal fit on the stereomicroscope. The readings from the stereomicroscope were tabulated; independent Student's t-test was used to compare the marginal fit between Group A and Group B. The mean gap on all four tooth surfaces in Group A (with use of die lubricant) was more compared to Group B (without use of die lubricant). CONCLUSION: Die lubricant definitely has their effect on fit of the wax pattern which later might be duplicated in the casting.

Barriers to Timely Diagnosis and Management of Breast Cancer: Observations from a Tertiary Referral Center in Resource Poor Setting.

Breast cancer (BC) is the most common cancer among females worldwide, with over 2 million cases diagnosed every year. In India, it is the most common malignancy overall (15.4%) and accounts for about 27% female cancers. Morbidity and mortality remain high despite improvements in BC therapeutics. Conventionally, a gap of more than 3 months between noticing symptoms and commencing treatment is considered delay in BC management. Delays make BC an important public health problem and lead to poor outcomes. This study aims to identify patient perceived barriers to BC management. A self-designed structured questionnaire consisting of questions pertaining to multiple aspects of BC presentation and management was prepared. The study was conducted from October 2017 to September 2018 and results were analyzed. A delay of 3 months or more was seen in 284 of the 435 patients (65.3%), among which 179 was patient delay, 69 due to provider delay, and 36 due to a combined contribution of both factors. Provider factors were associated with prolonged delay. Misdiagnosis at first consult was the most common factor perceived by patients as a barrier, followed by delay in referral, distance from hospitals, lack of information, financial constraints, and logistic issues. A significant patient and provider delay exists in BC management which prevents effective early therapy. Effective tackling of these barriers may result in the betterment of BC management outcomes. Robust screening, education of patients and providers, and awareness promotion and infrastructure development will be useful in this regard.

Abdominal Physical Signs and Medical Eponyms: Part I. Percussion, 1871-1900.

BACKGROUND: Percussion is derived from the Latin word to hear and to touch. Percussion of the abdomen is used to detect areas of tenderness, dullness within an area of tenderness suggestive of a mass, shifting dullness representing fluid or blood, splenic, hepatic and bladder enlargement, and free air in the peritoneum. Covered are abdominal signs of percussion attributed as medical eponyms from the time-period beginning in the mid-late nineteenth century. Described is historical information behind the sign, descriptions of the sign, and implication in modern clinical practice. DATA SOURCES: PubMed, Medline, online Internet word searches, textbooks, and references from other source text. PubMed was searched using the Medical Subject Heading (MeSH) of the name of the eponyms and text words associated with the sign. CONCLUSION: Percussion signs defined as medical eponyms were important discoveries adopted by physicians prior to the advent of radiographs and other imaging and diagnostic techniques. The signs perfected during this time-period provided important clinical cues as to the presence of air within the peritoneum or rupture of the spleen.

Abdominal Physical Signs and Medical Eponyms: Part II. Percussion and Auscultation, 1924-1980.

BACKGROUND: Percussion and auscultation are derived from the Latin words to touch and hear, respectively. Covered are abdominal percussion signs and ausculatory signs discovered from 1924 to 1980. Signs ascribed as medical eponyms pay homage to these physicians who provided new and unique insights into disease. DATA SOURCES: PubMed, Medline, online Internet word searches, textbooks, and references from other source text. PubMed was searched using the Medical Subject Heading (MeSH) of the name of the eponyms and text words associated with the sign. CONCLUSION: Many of these signs have been discarded because of modern imaging and diagnostic techniques. When combined with a high clinical suspicion, positive results using percussion combined with palpation is a useful bedside technique in detecting splenic enlargement. Thus, some of these maneuvers remain important bedside techniques that skilled practitioners should master, and along with a meaningful history, provide relevant information to diagnosis. It is through learning about these signs that we gain a sense of humility on the difficulty physicians faced prior to the advent of techniques that now allow us an easier way to visualize and diagnose the underlying disease processes.

Abdominal Physical Signs of Inspection and Medical Eponyms.

BACKGROUND: An eponym in clinical medicine is an honorific term ascribed to a person(s) who may have initially discovered or described a device, procedure, anatomical part, treatment, disease, symptom, syndrome, or sign found on physical examination. Signs, although often lacking sufficient sensitivity and specificity, assist in some cases to differentiate and diagnose disease. With the advent of advanced technological tools in radiological imaging and diagnostic testing, the importance of inspection, the initial steps taught during the physical examination, is often overlooked or given only cursory attention. Nevertheless, in the era of evidence-based and cost-effective medicine, it becomes compelling, and we contend that a meticulously performed history and physical examination, applying the basic tenets of inspection, remains paramount prior to obtaining appropriate diagnostic tests. DATA SOURCES: PubMed, Medline, online Internet word searches and bibliographies from source text and textbooks. PubMed was searched using the Medical Subject Heading (MeSH) of the name of the eponyms and text words associated with the sign. CONCLUSIONS: We describe the historical aspect, clinical application, and performance of medical eponymous signs of inspection found on physical examination during the 18th to 20th centuries.

Abdominal Physical Signs and Medical Eponyms: Part III. Physical Examination of Palpation, 1926-1976.

BACKGROUND: This paper describes medical eponyms associated with abdominal palpation from the period 1926-1976. Despite opposition by some, eponyms are a long standing tradition and widely used in medicine. The techniques may still be useful in some cases, assisting in the selection of an appropriate and cost-effective approach to patient care. In this piece, we cover signs named in honor of physicians who contributed to medicine by developing new palpatory techniques in an attempt to better diagnose disease of the abdominal wall, umbilicus, gallbladder, pancreas, and appendix. DATA SOURCES: PubMed, Medline, online Internet word searches, textbooks, and references from other source texts. PubMed was searched using the Medical Subject Heading (MeSH) of the name of the eponyms and text words associated with the sign. CONCLUSION: We describe brief historical background information about the physician who reported the sign, original description of the sign, and its clinical application and implication into today's medical practice.

Abdominal Physical Signs and Medical Eponyms: Part II. Physical Examination of Palpation, 1907-1926.

BACKGROUND: Abdominal palpation is an important clinical skill used by physicians to detect the cause of the underlying disease. Abdominal physical signs reported as medical eponyms are sometimes helpful in supporting or confirming clinical suspicion of a diagnosis. With the advent of advanced and rapid imaging techniques physicians often know the diagnosis prior to setting their hands on patients. Nevertheless, knowledge of these signs may still remain important in settings where imaging may not be readily available and importantly provide deeper insights into the mechanism of disease. In this paper, described are medical eponyms associated with abdominal palpation from the period 1907-1926. DATA SOURCES: PubMed, Medline, on-line Internet word searches, textbooks, and references from other source text were used as the data source. PubMed was searched using the Medical Subject Heading (MeSH) of the name of the eponyms and text words associated with the sign. CONCLUSION: We describe brief historical background information about the physician who reported the sign, original description of the sign, and its clinical application and implication into today's medical practice.

Abdominal Physical Signs and Medical Eponyms: Movements and Compression.

BACKGROUND: Prior to the advent of modern imaging techniques, maneuvers were performed as part of the physical examination to further assess pathological findings or an acute abdomen and to further improve clinicians' diagnostic acumen to identify the site and cause of disease. Maneuvers such as changing the position of the patient, extremity, or displacing through pressure a particular organ or structure from its original position are typically used to exacerbate or elicit pain. Some of these techniques, also referred to as special tests, are ascribed as medical eponym signs. DATA SOURCES: PubMed, Medline, online Internet word searches, textbooks and references from other source text. PubMed was searched using the Medical Subject Heading (MeSH) of the name of the eponyms and text words associated with the sign. CONCLUSION: These active and passive maneuvers of the abdomen, reported as medical signs, have variable performance in medical practice. The lack of diagnostic accuracy may be attributed to confounders such as the position of the organ, modification of the original technique, or lack of performance of the maneuver as originally intended.

Abdominal Physical Signs and Medical Eponyms: Physical Examination of Palpation Part 1, 1876-1907.

BACKGROUND: Abdominal palpation is a difficult skill to master in the physical examination. It is through the tactile sensation of touch that abdominal tenderness is detected and expressed through pain. Its findings can be used to detect peritonitis and other acute and subtle abnormalities of the abdomen. Some techniques, recognized as signs or medical eponyms, assist clinicians in detecting disease and differentiating other conditions based on location and response to palpation. Described in this paper are medical eponyms associated with abdominal palpation from the period 1876 to 1907. DATA SOURCES: PubMed, Medline, on-line Internet word searches, textbooks and references from other source text were used as the data source. PubMed was searched using the Medical Subject Heading (MeSH) of the name of the eponyms and text words associated with the sign. CONCLUSION: We present brief historical background information about the physician who reported the sign, original description of the sign, and its clinical application and implication in today's medical practice.

Rhabdomyolysis: A Rare Adverse Effect of Levetiracetam.

Levetiracetam is an anti-epileptic that works at the synapse and binds synapse vesicle protein 2A, thereby controlling the release of neurotransmitters. Its side effects mainly include somnolence, headache, fatigue, dizziness, vomiting, and behavioral alterations. Rhabdomyolysis is a rare adverse effect of levetiracetam. The underlying pathophysiology of this adverse effect is unknown. Our patient is a 42-year-old male who was brought to the hospital with a complaint of generalized tonic-clonic seizures and urinary incontinence. His symptoms were caused by hyponatremia. Levetiracetam was started for seizure prevention along with management for hyponatremia. His creatine phosphokinase levels increased on the third day of admission to 30,000 U/L. Four days after the discontinuation of levetiracetam and with the institution of supportive therapy, the patient's rhabdomyolysis resolved.

Prosthodontic Rehabilitation for a Worn Out Dentition Using Aesthetic Preevaluative Temporaries and Dental GPS Smile Designing Concepts: A Clinical Report.

An optimally created occlusion will be better able to deal with the forces generated in function and parafunction. This case report will highlight the full-mouth rehabilitation of a patient with worn out dentition in the minimally invasive way which offers the users a more systematic and a precise treatment. CLINICAL RELEVANCE: It gives us an idea of a treatment modality for full-mouth rehabilitation whereby the anterior teeth cause a uniform disocclusion of the posterior teeth during excursive movements, thereby protecting the teeth from the harmful effects of the cuspal interference.

Spontaneous Mediastinal Emphysema.

The author presents a case of spontaneous mediastinal emphysema, also known as the Hamman's syndrome. This case presentation highlights the common features of spontaneous mediastinal emphysema and reminds the clinician to have an index of suspicion for this diagnosis.

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 1, Neuroendocrine Tumors, Mast Cell Disorders and Hyperbasophila.

Flushing is the subjective sensation of warmth accompanied by visible cutaneous erythema occurring throughout the body with a predilection for the face, neck, pinnae, and upper trunk where the skin is thinnest and cutaneous vessels are superficially located and in greatest numbers. Flushing can be present in either a wet or dry form depending upon whether neural-mediated mechanisms are involved. Activation of the sympathetic nervous system results in wet flushing, accompanied by diaphoresis, due to concomitant stimulation of eccrine sweat glands. Wet flushing is caused by certain medications, panic disorder and paroxysmal extreme pain disorder (PEPD). Vasodilator mediated flushing due to the formation and release of a variety of biogenic amines, neuropeptides and phospholipid mediators such as histamine, serotonin and prostaglandins, respectively, typically presents as dry flushing where sweating is characteristically absent. Flushing occurring with neuroendocrine tumors accompanied by gastrointestinal symptoms is generally of the dry flushing variant, which may be an important clinical clue to the differential diagnosis. A number of primary diseases of the gastrointestinal tract cause flushing, and conversely extra-intestinal conditions are associated with flushing and gastrointestinal symptoms. Gastrointestinal findings vary and include one or more of the following non-specific symptoms such as abdominal pain, nausea, vomiting, diarrhea or constipation. The purpose of this review is to provide a focused comprehensive discussion on the presentation, pathophysiology, diagnostic evaluation and management of those diseases that arise from the gastrointestinal tract or other site that may cause gastrointestinal symptoms secondarily accompanied by flushing. This review is divided into two parts given the scope of conditions that cause flushing and affect the gastrointestinal tract: Part 1 covers neuroendocrine tumors (carcinoid, pheochromocytomas, vasoactive intestinal polypeptide, medullary carcinoma of the thyroid), polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes (POEMS), and conditions involving mast cells and basophils; while Part 2 covers dumping syndrome, mesenteric traction syndrome, rosacea, hyperthyroidism and thyroid storm, anaphylaxis, panic disorders, paroxysmal extreme pain disorder, and food, alcohol and medications.

Flushing Disorders Associated with Gastrointestinal Symptoms: Part 2, Systemic Miscellaneous Conditions.

Flushing disorders with involvement of the gastrointestinal tract represent a heterogeneous group of conditions. In part 1 of this review series, neuroendocrine tumors (NET), mast cell activation disorders (MCAD), and hyperbasophilia were discussed. In this section we discuss the remaining flushing disorders which primarily or secondarily involve the gastrointestinal tract. This includes dumping syndrome, mesenteric traction syndrome, rosacea, hyperthyroidism and thyroid storm, anaphylaxis, panic disorders, paroxysmal extreme pain disorder, and food, alcohol and medications. With the exception of paroxysmal pain disorders, panic disorders and some medications, these disorders presents with dry flushing. A detailed and comprehensive family, social, medical and surgical history, as well as recognizing the presence of other systemic symptoms are important in distinguishing the different disease that cause flushing with gastrointestinal symptoms.

Can Statins Diminish Depression?

Depression is a common malady associated with numerous chronic medical conditions such as coronary artery disease, hypertension, and diabetes. Statins provide protection against coronary and cerebrovascular diseases by decreasing cholesterol synthesis in the liver. Statin medications also reduce inflammation. Since the pathophysiology of depression involves inflammation, statins could have a role in the treatment of mood disorders and might become a pharmacotherapy option for patients experiencing depression. There is evidence suggesting an antidepressant effect when statins are adjunctively co-prescribed with antidepressant medicines. However, confounding data also exist refuting a positive effect of these drugs at elevating mood. More research is required to confirm a potentially beneficial effect of prescribing statins to people with clinical depression.