https://www.healthdisgroup.us/journals/global-journal-of-rare-diseases A Peertechz Open Access Journal en-us 13 Sep, 2024 https://www.healthdisgroup.us/articles/GJRD-9-136.php Immunosuppressed patients are more at risk of suffering bacteremias due to atypical microorganisms such as Campylobacter coli, which can colonize their intestinal mucosa due to the absence of IgA, the main immunoglobulin of the mucosa and which is not provided with intravenous or subcutaneous immunoglobulin treatment. We have recently had a case of a 5-year-old girl with autosomal recessive agammaglobulinemia with recurrent Campylobacter coli bacteremia and positive stool cultures for the same microorganism. She was treated with intravenous antibiotherapy and given the recurrence of bacteremia, oral gentamicin was associated with this treatment to try to achieve intestinal eradication of the germ. Oral gentamicin was well tolerated, gave no side effects, and managed to eradicate the microorganism 6 months after the end of treatment. We want to reflect the scarce literature on the use of oral gentamicin, the dose and duration of treatment, and the good evolution of our patient with the regimen used. 23 Aug, 2023 https://www.healthdisgroup.us/articles/GJRD-8-135.php Introduction: Gastrointestinal manifestations in systemic lupus erythematosus are common and may involve any segment of the digestive tract. Lupus enteritis is one of the manifestations responsible for abdominal pain. Its treatment is based essentially on corticosteroids. The use of immunosuppressive drugs is reserved for recurrent forms or in case of failure of corticosteroids. Materials and methods: We report a case of “acute intestinal obstruction in systemic lupus erythematosus” in the Department of Emergency visceral surgery. Results: Mrs. SQ, S, 24 years old, was diagnosed one week ago with systemic lupus erythematosus at the beginning of treatment, with a history of pancreatitis stage E, history of current illness goes back to 05 days before her admission by the installation of a sub-occlusive syndrome made of cessation of matter and gas associated with food vomiting, with cessation of matter and gas in the last 48 hours. Para-clinical The Abdomen without preparation showed hydroaeric levels. With an abdominal CT scan which showed: CT scan appearance in favor of bowel obstruction with evidence of a transitional level above the umbilical: inflammatory stenosis? The spontaneously hyper-dense appearance of the colonic lumen and some ileal intestines is most probably related to a digestive hemorrhage that could be part of lupus enteritis given the patient’s past history with the spontaneously hyper-dense appearance of the colonic lumen and ileal intestines most probably related to a digestive hemorrhage. And distension of the jejunal and some ileal coves, measuring: 36mm in maximum diameter, the seat of hydrophobic level with a transitional level above umbilical. Significant gastric distension. No parietal pneumatosis with no parietal enhancement defect. In view of the clinical symptomatology and the CT scan results, the patient underwent an exploratory laparotomy with the following findings: Absence of peritoneal effusion with the presence of a 3 cm distension of the bowel without any sign of flange, stenosis, or detectable obstacle, with the performance of multiple biopsies at the level of the greater omentum, the mesentery, and the anterior parietal peritoneum Conclusion: Intestinal pseudo-obstruction is a rarely reported manifestation during systemic lupus erythematosus. It is a rare but potentially serious manifestation that can reveal the disease or occur during the course of the disease. The use of immunosuppressive drugs is reserved for recurrent forms or in case of failure of corticosteroids. However, recurrences are frequent. Azathioprine is an alternative therapy to control the disease. However, recurrences are frequent. Azathioprine is an alternative therapy to control the disease. 18 Oct, 2022 https://www.healthdisgroup.us/articles/GJRD-7-134.php Down Syndrome (DS, hereinafter) is a chromosomal alteration produced by changes in the DNA sequence of chromosome 21, in addition to being the main cause of intellectual disability in the world [1]. According to the World Health Organization [2], DS has a worldwide prevalence of 1 in every 1,000 live births, but these figures vary due to different factors such as prenatal diagnosis. Others say that DS occurs in about 1 in 700 births [3]. 29 Aug, 2022 https://www.healthdisgroup.us/articles/GJRD-7-133.php Multiple System Atrophy (MSA) regards a group of neurodegenerative diseases sharing the same physiopathology. It is a rare group of diseases and often represents a diagnostic challenge for clinicians. Mild symptoms are present at the onset of the disease and are often neglected by patients. The case report describes a 62-year-old female with multiple episodes of syncope with 3 months evolutions. Anamnesis revealed sleep apnoea and urinary incontinence. In order to perform complementary exams, the patient was admitted to the medical ward. Autoimunnity results were negative discarding this etiology; 24-hour arterial pressure monitoring revealed a severe fluctuation of tensional values capable of explaining syncope. Other exams revealed no pathological alterations responsible for the patient complaints. Multiple System Atrophy diagnosis was made after exclusion of other possible aetiological causes for the patient’s symptoms. More prevalent diseases such as Parkinson’s Disease, atypical Parkinsonic syndromes, and pure autonomic failure, among others may replicate the same symptoms. Diagnosing the patient with Multiple System Atrophy represented a challenge because of its rarity and clinical complexity. Being a disease with poor outcomes and representing necessary lifestyle changes to the patients and family life, an early and exact diagnosis may provide time and more life quality, within the disease limitations. Internists are often presented with complex patients being obligated to gather all pieces, and put them together, so that de puzzle may be deciphered. Learning points - Multiple systems atrophy is a rare incapacitating disease and it is believed to be underdiagnosed; - Complex diseases often present mild nonlimiting symptoms that patients might tend to neglect. 12 Apr, 2022 https://www.healthdisgroup.us/articles/GJRD-7-132.php Clinical publications on this morbid condition report as many as 16 different Nav1 7 channel substitutions. They also report more than 40 pharmacological treatments, including agents with sodium channel blocking but nonspecific activity (mexiletine, lidocaine, carbamazepine), anti-neuropathic drugs (gabapentinoids and antidepressants), antidepressant drugs with efficacy on migraines (amitriptyline) vasoactive drugs for the management of hypertension, and analgesics (opioids and ketamine). Current research fails to address all patients’ clinical needs, although it recently suggests new genetic hypotheses yet to be tested and the central importance of genetic counseling, to inform patients and their families about the severity, likely course of symptoms, and risk of complications, and in some cases to guide clinical management. Current findings and the significant morbidity associated with the condition, even in light of the single case presented, highlight the need for mechanism-based therapies to improve clinical outcomes. 10 Aug, 2021 https://www.healthdisgroup.us/articles/GJRD-6-131.php Diabetes mellitus is one of the main comorbidities associated with mortality and severe disease in infections with SARS-CoV-2. Extracts from the leaves of Morus alba and Stevia rebaudiana are used in traditional medicine to control diabetes. A brief review is made of the potential of these extracts to improve the conditions associated with COVID-19, not only through the control of diabetes but also for the presence of chemical compounds, particularly flavonoids, which have shown antiviral activity in pharmacological and in silico studies. 01 Jul, 2021 https://www.healthdisgroup.us/articles/GJRD-6-130.php COVID 19 pandemic has presented an opportunity for health care providers to expand their understanding of risks of using neglectful or abusive behavior to the elder during this time, and consider incorporating studies related to this challenge. Individuals experiencing caregiving concern and stress about whether their loved ones’ needs will be met should be considered. They should be more open to share their uncomfortable experiences. Being aware of the problems of older adults and their caregivers is critical to helping them thrive and survive during this pandemic. Addressing increased risks, attending to mental health needs, and connecting older adults to caregiving and providing financial resources can all help the old patients and their loved ones to avoid violent and abusive situations and be safer. 13 May, 2021 https://www.healthdisgroup.us/articles/GJRD-6-129.php Splenic rupture, no matter what the cause is, is associated with significant mortality. It can present either acutely after trauma, or days to weeks later, a situation known as ‘’delayed splenic rupture (DSR)’’. On the other hand, splenic rupture without trauma history occurs mainly in a pathologically altered spleen, a rare situation called atraumatic splenic rupture (ASR). Cases of ASR of normal spleen have been reported in literature with various cause as far as trauma is concerned. 20 Nov, 2020 https://www.healthdisgroup.us/articles/GJRD-5-128.php A history signifies that there were different pandemic diseases across the globe at different times that brings a fundamental consequence in psychological, socio-economic and political situations. Evidences showed that most emergency diseases were geographically restricted while others were/are not that attracts the professionals in developing insight and taking cross cutting decision. COVID-19 is the newly emerged pandemic across the globe at the end of 2019 but still shivering the world. Evidences indicated that many countries in the world invest their time, money, energy and strategy to tackle COVID-19 with heavy hesitation for future market instability, hunger and other silent killer diseases as their current plan do not glance to them. 04 Nov, 2020 https://www.healthdisgroup.us/articles/GJRD-5-127.php This paper describes a 4 month-old-girl with food allergies, mitochondrial disease, cutaneous lupus, and hypertrophic cardiomyopathy. She suffered from infectious pericarditis due to Coxsakie virus as a complication. She additionally presented bicytopenia (hemoglobin levels 8.9 g/dL, platelets 127 x 103 / µL), high lactate levels (5mmol/L), seizures, hypertrophic cardiomyopathy. This was suggestive of mitochondrial disease. Specific IgE levels were positive for milk, patch tests were positive for milk and soy, with a persistency of symptoms with extensively hydrolyzed formula as well as an amino acid-based formula. A chicken-based formula was well tolerated. Coenzyme Q10 levels were low (0.29L). Low Coenzyme Q10 levels in mitochondrial patients have been found as well as in allergic diseases. We suggest that food hypersensitivity should be ruled out in mitochondrial patients with low Coenzyme Q10 levels. 24 Oct, 2020 https://www.healthdisgroup.us/articles/GJRD-5-126.php Purpose: Skeletal dysplasias comprise a heterogenous group of genetic disorders that have generalized abnormalities in cartilage and bone. Although individually rare, collectively it is common with an estimate of 1 in 2000 to 3000. Individuals with skeletal dysplasias are known to be at risk for a myriad of medical complications associated with their conditions; hence a multidisciplinary approach to care is essential. This paper describes the opportunities and challenges in the creation of a multidisciplinary clinic for Filipino patients with skeletal dysplasia. Materials & methods: A multidisciplinary clinic for Filipino patients with skeletal dysplasia was started. This is the first of its kind and made possible with the collaboration of the Departments of Pediatrics, Orthopedics and Rehabilitation Medicine of the Philippine General Hospital, in coordination with the Big Dreams for Little People – Philippines, an organization of Philippine-based people with dwarfism. Results: A total of 25 patients in 21 families were seen in the clinic. 13 of the 25 patients (52%) were diagnosed clinically with achondroplasia. Medical concerns include hearing difficulty (3/25), low back pain (7/25), hip pain (2/25), ankle pain (1/25), and obstructive sleep apnea (1/25). Six of the 25 needed regular physical therapy. Conclusion: Despite the limitations of molecular confirmation in many skeletal dysplasias and the challenges brought about by the Covid-19 pandemic, the multidisciplinary clinic for Filipino patients with skeletal dysplasia allowed awareness of patients and physicians of this group of disorders. In addition to better care directed towards the medical concerns of this special population, it is also hoped to improve health-seeking behavior of patients as access to healthcare is available. 09 Sep, 2020 https://www.healthdisgroup.us/articles/GJRD-5-125.php Despite parkinson’s disease to be one of the most frequent movement disorders, with motor and non-motor symptoms and pharmacological and surgical treatments, we present a case of temporary improvement of motor symptoms after an accidental electric shock and we highlight the need for furthrer studies to discuss possible mechanisms involved in this case. 07 Sep, 2020 https://www.healthdisgroup.us/articles/GJRD-5-124.php The Duane-Radial Ray syndrome or Okihiro syndrome belongs to the SALL4-Related Disorders, a phenotypic spectrum, that additionally includes, acrorenoocular syndrome and Holt-Oram syndrome, caused by the alteration of the same gene, which has significant relevance in the mesoderm, the limbs, and the heart development. These syndromes are characterized by thumb alteration, radial deviation of the forearm, Duane anomaly, and variable involvement of other organs such as kidney or heart. The prevalence is unknown. This is a case report of a Chilean patient with a pathogenic variant that confirms the Duane Radial Ray syndrome previously not described in the population. 18 Aug, 2020 https://www.healthdisgroup.us/articles/GJRD-5-123.php Introduction: Double homozygous mutation with the presence of double mutations in each allele is a very rare phenomenon with only 2 reports that have described this phenomenon in the medical literature. Objective: To find the prevalence of double homozygous in our Cf population and to describe their mutations and review of the literature in this phenomenon. Methodology: A case series and a review of the literature from 1989-2020 for similar phenomenon. Results: A total of 396 patients (312 families) confirmed CF that were positive for the cystic fibrosis transmembrane conductance regulator (CFTR) variants from January 1998 to December 2018. A total of four families that constitute 4 patients were positive for double homozygous CFTR mutations in Trans position status. All parents were first-degree cousins. Their clinical pictures were of the severe type in relation to chest disease and failure to thrive. Family screening showed that 7 family members were carriers with double heterozygous mutations in Cis position. The Prevalence of double homozygous CFTR mutation in our study is 4/312 families or 1-2:100 families which is the highest that has been reported in the medical literature. Literature review showed only 2 cases of double homozygous were reported in 1995 and 2017. Conclusion: Double homozygous CFTR mutations are common in the Saudi population due to consanguinity. Proper and extended genetic counseling is needed for the same family and their relatives to prevent similar conditions. 24 Apr, 2020 https://www.healthdisgroup.us/articles/GJRD-5-122.php We present a challenging diagnosis of disseminated intrahepatic cholangiocarcinoma presenting with perineal cutaneous masses in a young African American male with known hidradenitis suppurativa. The patient was a 39-year-old male who presented to the emergency department with difficulty walking due to severe gluteal swelling and pain. The patient had an 18-month history of biopsy-proven hidradenitis suppurativa. Examination under anesthesia disclosed a 9×6 cm left perianal mass and right 5×3 cm right peri-scrotal mass; both masses were excised and revealed adenocarcinoma with signet ring cell differentiation. The patient was diagnosed with widely metastatic adenocarcinoma of unknown primary. Initiation of palliative capecitabine was planned however the patient decompensated and expired one month from the time of his diagnosis due to septic shock. Autopsy with histologic staining revealed innumerable liver lesions consistent with rare variant Intrahepatic Cholangiocarcinoma (ICC) with signet-ring cell differentiation. Multiple red papules were noted on the aortic valve with histology similarly demonstrating signet-ring cell adenocarcinoma. Cutaneous metastasis of cholangiocarcinoma has been reported but is rare, and to our knowledge this is the first reported case of cholangiocarcinoma cutaneous metastasis in a patient with hidradenitis suppurativa. This case re-emphasizes the protean presentation and aggressive metastatic potential of ICC. It also highlights the importance of maintaining a wide differential for dermatologic lesions in patients with hidradenitis suppurativa and postulates a mechanism for metastatic seeding of areas affected by this disease. 13 Apr, 2020 https://www.healthdisgroup.us/articles/GJRD-5-121.php Introduction: Gross hematuria in adults with resultant anemia is highly concerning for genitourinary malignancy. However, in rare instances, malakoplakia can mimic such malignancy. Malakoplakia is a benign granulomatous condition with malfunction of the phagolysosomal activity of macrophages and monocytes. This leads to formation of foamy histocytes with intracytoplasmic basophilic inclusions known as Michaelis-Gutmann bodies. These inclusion bodies are pathognomonic for the condition. 03 Apr, 2020 https://www.healthdisgroup.us/articles/GJRD-5-120.php Cutis Marmorata Telangiectasia Congenita (CMTC, also known as van Lohuizen syndrome) is a rare disorder characterised by dilatation of the cutaneous vasculature. This results in a blue-purple ‘marbled’ appearance of the skin due to telangiectasia, phlebectasia and persistent cutis marmorata. It is often mistaken for benign cutis marmorata and is therefore likely underdiagnosed. CMTC can occur in connection with other dysmorphic findings in several syndromes (e.g. Adams-Olivers) or in isolation. We review the evidence surrounding the epidemiology, pathophysiology and management of isolated CMTC, and contextualize it with a case. 28 Feb, 2020 https://www.healthdisgroup.us/articles/GJRD-5-119.php Background: Ruprecht Majewski-Bosma syndrome is an extremely rare dysmorphic syndrome results from severe hypoplasia of the nose and eyes occurring in association with palatal abnormalities. It is characterized by congenital complete nasal agenesis (Bilateral aplasia of the nose), microphthalmia including clinical anophthalmia, hypertelorism and other eye defects, high arched palate, and other palatal defects. 18 Dec, 2019 https://www.healthdisgroup.us/articles/GJRD-4-118.php Context: The purpose of this study was to determine whether the expression of sensory neuropeptides, NK1, 5-HT1A receptors, as well as mast cells in the skin of patients with hereditary neuropathy and sensory and autonomic deficits (HSAN type 5) was elevated. Such increase might reflect an attempt to compensate for nerve loss. 12 Nov, 2019 https://www.healthdisgroup.us/articles/GJRD-4-117.php We report the case of a 62-year-old woman with Gottron’s acrogeria and peliosis hepatis. Gottron’s acrogeria is a rare congenital disease characterized by atrophic acral skin with mottled hyperpigmentation and an aged appearance. 20 Sep, 2019 https://www.healthdisgroup.us/articles/GJRD-4-116.php Malignant peripheral nerve sheath tumors (MPNST) are malignant cancers with origins found within peripheral nerves of various body regions-most commonly involving the buttocks, thighs, brachial plexus and para-spinal region [1]. While MPNSTs account for only 5%-10% of all soft tissue sarcomas, there exist MPNST variations that occur with greater rarity [2]. Specifi cally, Malignant Triton Tumors (MTT) are a subset of MPNST with rhabdomyoblastic differentiation and account for only 5% of all MPNST cases [3]. 13 Sep, 2019 https://www.healthdisgroup.us/articles/GJRD-4-115.php It is well known that ILAE (International League Against Epilepsy) has prepared an offi cial report on “practical clinical determination of epilepsy” [1]. In this report, ILAE aims to broaden the understanding of epilepsy according tepileptologist’s perceptions of epilepsy. This includes the time frame for determining the clinical status and diagnosis described below. 19 Aug, 2019 https://www.healthdisgroup.us/articles/GJRD-4-114.php Pediatric intracranial aneurysm (PIA) is a rare condition, accounting 7% of all intracranial aneurysms. A slight male predominance is observed (two to one) and 25% of lesions are in posterior circulation. 16 Jul, 2019 https://www.healthdisgroup.us/articles/GJRD-4-113.php Emerging infections represent a concern especially when their increase is rapid and their mortality is high [1]. Middle East Respiratory Syndrome coronavirus (MERS-CoV) with high intensity and lethality and unknown epidemiological aspects is one of the emerging infections which should be considered as a threat to global health security [2]. 05 Jul, 2019 https://www.healthdisgroup.us/articles/GJRD-4-112.php Purpose: Alazami syndrome is a rare autosomal recessive disorder with core phenotypic manifestations of short stature, mild facial dysmorphism, and global developmental delay evolving to severe intellectual disability. Homozygous loss-of-function mutations in LARP7 gene, which encodes a chaperone protein of the noncoding RNA 7SK, have been detected in patients with Alazami syndrome. Since its fi rst description in 2012, only six families with Alazami syndrome have been reported to date. This case is reported to expand the phenotypic description to include small kidneys. 04 Feb, 2019 https://www.healthdisgroup.us/articles/GJRD-4-111.php Objective of the present study was to evaluate the overview of Brucellosis disease. Brucellosis is a bacterial disease which is also called undulant fever. Both human and animals are affected from this disease. When people eat contaminated food like raw meat and unpasteurized milk, they suffered from brucellosis disease. A Questionnaire was prepared that contain the question like Brucellosis is a bacterial disease, viral disease or a fungal disease. Are you suffered from this disease? Is Brucellosis treated by medicines or a surgery? Total number of university students, which took part in this research are 90. All the students belong to Bahauddin Zakariya University in Multan, Pakistan age from 20-23. We concluded that we should avoid raw meat and unpasteurized milk to getting the chance of Brucellosis. 29 Dec, 2018 https://www.healthdisgroup.us/articles/GJRD-3-110.php Ortner syndrome (OS) is a rare condition characterized by hoarseness of voice in association with a cardiovascular disease. Mitral stenosis is a well-recognized cause; however, because of control of rheumatic fever and rheumatic heart disease in many parts of the world, there may be a shift of the underlying aetiology to other cardiac and non-cardiac conditions. Aortic diseases and pericardial effusion as the cause of OS, are being increasingly recognized. Here, 7 cases of OS have been presented, with special attention to their clinical presentation, underlying pathology, diagnostic work-up, treatment offered and the prognosis observed. Three cases expired, 2 cases were managed successfully, while 2 cases are waiting for surgery. In all cases, hoarseness of voice did not improve. OS should be a differential diagnosis while dealing with a patient with otherwise unexplained hoarseness of voice. 24 Jun, 2017 https://www.healthdisgroup.us/articles/GJRD-2-109.php Gingival elephantiasis is a rare slow progressive lesion which is also known as gingival fibromatosis. It can be localized or generalized. This condition can be inflammatory, non-inflammatory or combination of both. 24 May, 2017 https://www.healthdisgroup.us/articles/GJRD-2-108.php Although stridor is a common respiratory symptom associated with upper respiratory diseases, yet its relation with hypocalcemia is not widely appreciated. The mechanism of hypocalcemia in causing stridor might be a collapsing of larynx most likely caused by decalcification due to hypocalcemia. 03 Apr, 2017 https://www.healthdisgroup.us/articles/GJRD-2-107.php It is well known that Interferon-gamma release assays (IGRAs) are more specific than the purified protein derivative (PPD) skin tests in diagnosing tuberculosis as it is not confounded by prior bacillus Calmette-Guérin (BCG) vaccination. 03 Mar, 2017 https://www.healthdisgroup.us/articles/GJRD-2-106.php Cowchock Wapner Kurtz syndrome is a very rare disease and lethal disorder with cervical lymphangioma obstructing the airway and causing complications, with accelerated growth resembling a teratoma. 27 Jan, 2017 https://www.healthdisgroup.us/articles/GJRD-2-105.php Cardiocutaneous syndromes are rare, genetically determined disorders in which arrhythmogenic cardiomyopathy is accompanied by characteristic cutaneous phenotypes of woolly hair and palmoplantar keratoderma. 30 Dec, 2016 https://www.healthdisgroup.us/articles/GJRD-1-104.php Aarskog-Scott Syndrome is a rare syndrome and is estimated to occur in 1 in 1 million individuals in general population. It is transmitted in an X-linked recessive manner and occurs due to FGD1 gene mutation. It has facial, genital and digital hands symptoms, musculoskeletal anomalies and affected growth. 29 Dec, 2016 https://www.healthdisgroup.us/articles/GJRD-1-103.php Anamnios is due to extrinsic and intrinsic conditions. Intrinsic causes include maternal and fetal abnormalities mostly due to cystic renal changes or absence of kidney. Tubular dysgenesis characterized by a lack of proximal tubules should be considered. 13 Dec, 2016 https://www.healthdisgroup.us/articles/GJRD-1-102.php Background: Although poisoning from the ingestion of toxic plants is rarely encountered in Emergency Departments, it can cause serious complications and even death. It is difficult to recognize, diagnose, and differentiate if the patient is unconscious. 12 Dec, 2016 https://www.healthdisgroup.us/articles/GJRD-1-101.php The thyroglossal duct cyst (TGDC) is a well-known developmental abnormality encountered in the neck. It represents over 75% of childhood midline neck masses and 7% of the adult population. It typically presents as a mobile, painless mass in the anterior midline of the neck, usually in close junction to the hyoid bone.