scholarly journals DOWN SYNDROME – LONGITUDINAL STUDY OF CLINICAL EVOLUTION AND PSYCHO-SOCIAL IMPLICATIONS

2021 ◽  
Vol 70 (2) ◽  
pp. 135-140
Author(s):  
Codruța Diana Petchesi ◽  
◽  
Gabriela Ciavoi ◽  
Florentina Feier ◽  
Oana Alexandra Iuhas ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Longitudinal Study ◽  
Late Onset ◽  
Clinical Signs ◽  
Case Series ◽  
Signs And Symptoms ◽  
Emotional Impact ◽  
Regional Center ◽  
Chromosomal Disorder

Introduction. Down syndrome is the most common chromosomal disorder, with a worldwide frequency of 1 case in 700 live births. Objectives. Starting from the hypothesis that with the increased life expectancy of the patients with Down syndrome, new phenotypic changes and new dysfunctions are expected to appear, we proposed a longitudinal study to analyze their evolution over a long period of time. Material and method. This is a longitudinal study, based on retrospective research and descriptive evaluation, performed on a group of 81 patients from the case series of the Bihor Regional Center for Medical Genetics from Oradea. Results. We have identified 4 types of evolutionary trends of the clinical signs: stationary, involutive, progressive and with late onset. Conclusions. Knowledge of the natural evolution of the signs and symptoms of the disease is indispensable in the long-term monitoring of patients with Down syndrome. The birth of a child with Down syndrome is a real drama for the family with a strong emotional impact that can be prevented or mitigated by facilitating prenatal diagnosis, psychological counselling, social support and specialized genetic advice.

scholarly journals Which triggers could support timely identification of primary antibody deficiency? A qualitative study using the patient perspective

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Lisanne M. A. Janssen ◽  
Kim van den Akker ◽  
Mohamed A. Boussihmad ◽  
Esther de Vries
Keyword(s):  
Respiratory Infections ◽  
Diagnostic Delay ◽  
Signs And Symptoms ◽  
Negative Influence ◽  
Primary Antibody ◽  
Emotional Impact ◽  
Structured Interviews ◽  
Timely Treatment ◽  
The Way

Abstract Background Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing symptoms and making a diagnosis is vital to enable timely treatment. Studies on disease presentation have mainly been conducted using medical files rather than direct contact with PAD patients. Our study aims to analyze how patients appraised their symptoms and which factors were involved in a decision to seek medical care. Methods 14 PAD-patients (11 women; median 44, range 16-68 years) were analyzed using semi-structured interviews until saturation of key emergent themes was achieved. Results Being always ill featured in all participant stories. Often from childhood onwards periods of illness were felt to be too numerous, too bad, too long-lasting, or antibiotics were always needed to get better. Recurrent or persistent respiratory infections were the main triggers for patients to seek care. All participants developed an extreme fatigue, described as a feeling of physical and mental exhaustion and thus an extreme burden on daily life that was not solved by taking rest. Despite this, participants tended to normalize their symptoms and carry on with usual activities. Non-immunologists, as well as patients, misattributed the presenting signs and symptoms to common, self-limiting illnesses or other ‘innocent’ explanations. Participants in a way understood the long diagnostic delay. They know that the disease is rare and that doctors have to cover a broad medical area. But they were more critical about the way the doctors communicate with them. They feel that doctors often don’t listen very well to their patients. The participants’ symptoms as well as the interpretation of these symptoms by their social environment and doctors had a major emotional impact on the participants and a negative influence on their future perspectives. Conclusions To timely identify PAD, ‘pattern recognition’ should not only focus on the medical ‘red flags’, but also on less differentiating symptoms, such as ‘being always ill’ and ‘worn out’ and the way patients cope with these problems. And, most important, making time to really listen to the patient remains the key.

scholarly journals Laryngeal stent for acute and chronic respiratory distress in seven dogs with laryngeal paralysis

2020 ◽  
Vol 10 (1) ◽  
pp. 4-10 ◽  
Author(s):  
María Cecilia Ricart ◽  
Sergio Martín Rodríguez ◽  
Roberto Miguel Duré
Keyword(s):  
Respiratory Distress ◽  
Alternative Therapy ◽  
Clinical Signs ◽  
Surgical Techniques ◽  
Case Series ◽  
Laryngeal Function ◽  
Laryngeal Stenosis ◽  
Laryngeal Paralysis ◽  
Silicone Stent

Background: Laryngeal paralysis, failure of arytenoid cartilage, and vocal fold abduction are commonly seen in older medium to large breed dogs. Observation of laryngeal function in dogs and cats is performed by transoral visualization. There are a variety of surgical techniques; aspiration pneumonia is the most common complication associated with surgical correction of laryngeal paralysis. The aim of this case series is to report on the placement of a laryngeal silicone stent in seven dogs with laryngeal paralysis and its use as an alternative treatment of respiratory distress caused by laryngeal paralysis and/or its use for laryngeal stenosis as complication of laryngeal paralysis surgery.Case description: Seven dogs presented with either episode of gagging, mild-to-severe inspiratory distress, or cyanosis because of a laryngeal paralysis or laryngeal stenosis. In each case, the laryngeal paralysis was diagnosed by direct laryngoscopy. They were treated with a silicone laryngeal stent (Stening®) that substantially improved the clinical signs. Each dog had a different outcome because of other pathologies; however, the laryngeal pathology was successfully treated with the stent.Conclusion: The placement of the laryngeal stent is an easy technique to learn and practice, it could avoid the lifethreatening complications of the laryngeal paralysis at the acute phase, and it could be a noninvasive and long-term alternative therapy for laryngeal paralysis in dogs. The results in these clinical cases are encouraging for considering the laryngeal stent as a therapeutic alternative. Key words: Canine, Polyneuropathy, Prosthesis, Surgery.

Advances in Medical Genetics: Huntington Disease

1987 ◽  
Vol 9 (1) ◽  
pp. 13-14
Author(s):  
Frederick Hecht
Keyword(s):  
Molecular Genetics ◽  
Huntington Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
The United States ◽  
Medical Genetics ◽  
Clinical Signs And Symptoms ◽  
Huntington Chorea

Medical genetics is currently enjoying a time of exploration and discovery. Huntington disease has long been of interest in adult medicine. The onset of clinical signs and symptoms is usually delayed until midadulthood. It may seem strange in this context to focus on Huntington disease, but advances in molecular genetics have brought Huntington disease into the purview of pediatrics. These advances in molecular genetics make it possible to detect Huntington disease in a preclinical stage at or even before birth. The molecular approach does not replace prior approaches to Huntington disease but is synergistic and provides a model of the new genetics. Huntington disease is synonymous with Huntington chorea. It is named after George Huntington who, like his father and grandfather before him, studied the disease in families on Long Island, NY. Huntington disease is a more common hereditary disorder than phenylketonuria, which occurs in one of about 10,000 newborns in the United States. By contrast, about one in 2,000 persons is at risk for Huntington disease. Although most cases start clinically in midadulthood, usually between 35 and 42 years of age, there is great variability in age of onset. About 3% of cases are diagnosed as juvenile Huntington disease before the age of 15 years. Late onset is well known after 50 years of age.

Clinical characteristics and long-term outcome of lung lobe torsions in cats: a review of 10 cases (2000–2021)

2021 ◽  
pp. 1098612X2110548
Author(s):  
Catherine Tindale ◽  
Filippo Cinti ◽  
Matteo Cantatore ◽  
Alistair Freeman ◽  
Leonardo Cavaliere ◽  
...  
Keyword(s):  
Intraoperative Complications ◽  
Clinical Signs ◽  
Case Series ◽  
The Other ◽  
Complication Rates ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Lung Lobe ◽  
Lung Lobes

Case series summary Lung lobe torsion is rare in cats. The aim of this multi-institution retrospective study was to describe clinical and diagnostic findings, treatments and outcomes of lung lobe torsion (LLT) in 10 cats. Dyspnoea and tachypnoea were the most common clinical signs. Pleural effusion was present in nine cats at presentation. Fluid analysis confirmed chylothorax in three cats. Nine cats underwent CT and five cats had thoracic radiographs taken. A diagnosis was made preoperatively in six cats, while in the other four cats it was made at exploratory thoracotomy. Affected lung lobes were the right cranial (n = 4/11), left cranial (n = 4/11) and right middle (n = 3/11). One cat had a concurrent torsion of two lung lobes. Lung lobectomy was successfully performed in all cases. Based on clinical, diagnostic and lung histopathology findings, three cats had idiopathic and seven cats secondary LLT. Intraoperative complications included hypotension and hypothermia in four and five cats, respectively. Postoperative complications occurred in six cats and lead to euthanasia or death in four cats, whereas complications resolved in the other two cats. Three cats were euthanased within 5 weeks of discharge. For the three cats surviving long term, including one euthanased at 252 days postoperatively, owner-described outcomes and quality of life were considered good to excellent. Relevance and novel information Secondary LLT associated with underlying thoracic pathology was associated with high complication rates and poor outcomes. Long-term outcomes of cats undergoing surgery for LLT and surviving the perioperative period were deemed good to excellent.

scholarly journals Traumatic bone cyst of mandible: a case series

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Farnoosh Razmara ◽  
Zahra Ghoncheh ◽  
Ghazal Shabankare
Keyword(s):  
Bone Cyst ◽  
Clinical Signs ◽  
Case Series ◽  
Signs And Symptoms ◽  
Radiographic Examination ◽  
Radiographic Evaluation ◽  
History Of ◽  
Mandibular Region ◽  
Clinical Signs And Symptoms ◽  
Anterior Mandible

Abstract Background A traumatic bone cyst is an uncommon nonneoplastic lesion of the jaws that is considered as a “pseudocyst” because of the lack of an epithelial lining. This lesion is particularly asymptomatic and therefore is diagnosed by routine dental radiographic examination as a unilocular radiolucency with scalloped borders, mainly in the posterior mandibular region. The exact etiopathogenesis of the lesion remains uncertain, though it is often associated with trauma. Case presentation We report three Persian cases of traumatic bone cyst with different clinical and radiographic features, and we present a review of the literature to further discuss diagnostic and treatment challenges. Only one of the three patients reported a history of trauma, and despite the usual signs and symptoms of the lesion, extension of the defect to the ramus, swelling of the lingual cortex, and their unusual presence in the anterior mandible were noted in these patients. Conclusions Because features of this cyst can be varied, careful history taking and radiographic evaluation alongside the clinical signs and symptoms have a very significant role in definitive diagnosis, appropriate treatment, and accurate assessment of prognosis.

scholarly journals Feline and Canine Cutaneous Lymphocytosis: Reactive Process or Indolent Neoplastic Disease?

2022 ◽  
Vol 9 (1) ◽  
pp. 26
Author(s):  
Francesco Albanese ◽  
Francesca Abramo ◽  
Michele Marino ◽  
Maria Massaro ◽  
Laura Marconato ◽  
...  
Keyword(s):  
Median Overall Survival ◽  
Clinical Signs ◽  
Case Series ◽  
Response To Treatment ◽  
Neoplastic Disease ◽  
Retrospective Case ◽  
Term Survival ◽  
Dermal Infiltrate

Cutaneous lymphocytosis (CL) is an uncommon and controversial lymphoproliferative disorder described in dogs and cats. CL is generally characterized by a heterogeneous clinical presentation and histological features that may overlap with epitheliotropic lymphoma. Therefore, its neoplastic or reactive nature is still debated. Here, we describe clinicopathological, immunohistochemical, and clonality features of a retrospective case series of 19 cats and 10 dogs with lesions histologically compatible with CL. In both species, alopecia, erythema, and scales were the most frequent clinical signs. Histologically, a dermal infiltrate of small to medium-sized lymphocytes, occasionally extending to the subcutis, was always identified. Conversely, when present, epitheliotropism was generally mild. In cats, the infiltrate was consistently CD3+; in dogs, a mixture of CD3+ and CD20+ lymphocytes was observed only in 4 cases. The infiltrate was polyclonal in all cats, while BCR and TCR clonal rearrangements were identified in dogs. Overall, cats had a long-term survival (median overall survival = 1080 days) regardless of the treatment received, while dogs showed a shorter and variable clinical course, with no evident associations with clinicopathological features. In conclusion, our results support a reactive nature of the disease in cats, associated with prolonged survival; despite a similar histological picture, canine CL is associated with a more heterogeneous lymphocytic infiltrate, clonality results, and response to treatment, implying a more challenging discrimination between CL and CEL in this species. A complete diagnostic workup and detailed follow-up information on a higher number of cases is warrant for dogs.

scholarly journals Neonatal Curettage of Large to Giant Congenital Melanocytic Nevi Under Local Anesthetic: A Case Series With Long-Term Follow Up

2021 ◽  
pp. 120347542110577
Author(s):  
Laura C. Soong ◽  
Alma Bencivenga ◽  
Loretta Fiorillo
Keyword(s):  
Local Anesthesia ◽  
Local Anesthetic ◽  
Clinical Signs ◽  
Case Series ◽  
Common Adverse Event ◽  
Effective Treatment Option ◽  
Melanocytic Nevi ◽  
Giant Congenital Melanocytic Nevi ◽  
Congenital Melanocytic Nevi

Background Neonatal curettage of large to giant congenital melanocytic nevi (L-GCMN) is a simple, minimally invasive procedure typically performed within the first 2 weeks of life. Objectives To retrospectively review our experience with serial curettage of L-GCMN in the neonatal period performed under local anesthesia and their long-term outcomes. Methods Curettage was performed by a single pediatric dermatologist on nine neonates with L-GCMN under local anesthetic and with oral analgesia between 2002 and 2016 in Red Deer, Alberta, Canada. Patient charts were reviewed retrospectively to assess patient and procedure characteristics, tolerability, safety, cosmetic and functional outcomes, and malignant transformation. Results Patients were treated with an average of 6 curettage sessions (range 3 to 15) to remove the majority or entirety of the nevus. All patients tolerated local anesthesia well. The most common adverse event of the procedure was transient neutropenia. Two patients developed positive bacterial cultures without clinical signs of infection, treated with antibiotics. All curetted specimens demonstrated benign pathology. Patients were followed annually thereafter, for an average of 6 years. Eight patients with L-GCMN of the trunk had minimal to partial repigmentation with good cosmetic outcome. One patient had recurrence of a facial nevus. None of the patients developed cutaneous malignant melanoma. Conclusions Curettage appears to be a safe and effective treatment option for select cases of L-GCMNs of the trunk. We do not recommend the procedure for face or scalp CMN. This procedure can be performed under local anesthesia with serial curettage to avoid potential risks of general anesthesia.

scholarly journals Clinical characteristics of COVID-19 in children compared with adults in Shandong, China

2020 ◽  
Author(s):  
Wenjun Du ◽  
Jinhong Yu ◽  
Hui Wang ◽  
Xiaoguo Zhang ◽  
Shouwei Zhang ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Health Workers ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Case Series ◽  
Signs And Symptoms ◽  
Asymptomatic Patients ◽  
Positive Indicators ◽  
Clinical Signs And Symptoms

Abstract Aims & Background: The COVID-19 outbreak spread in China and is a threat to the world. We reported on the epidemiological, clinical, laboratory, and radiological characteristics of children cases to help health workers better understand and provide timely diagnosis and treatment.Methods: Retrospectively, two research centers’ case series of 67 consecutive hospitalized cases including 14 children cases with COVID-19 between 23 Jan 2020 to 15 Feb 2020 from Jinan and Rizhao were enrolled in this study. Epidemiological, clinical, laboratory, and radiological characteristics of children and adults were analyzed and compared.Results: Most cases in children were mild(21.4%) and conventional cases(78.6%), with mild clinical signs and symptoms, and all cases were of family clusters. Fever (35.7%) and dry cough(21.4%) were described as clinical manifestations in children cases. Dry cough and phlegm were not the most common symptoms in children compared with adults(p=0.03). In the early stages of the disease, lymphocyte counts did not significantly decline but neutrophils counts did in children compared with adults(p=0.00).There was an elevated level of LDH(p=0.01) and a lower level of CRP(p=0.00)and IL-6(p=0.01) in children compared with adults. There were 8 (57.1%)asymptomatic cases and 6 (42.9%)symptomatic cases among the 14 children cases. The age of asymptomatic patients was younger than that of symptomatic patients(p=0.03). Even among asymptomatic patients, 5(62.5%)cases had pneumonia including 3 (60%) cases with bilateral pneumonia, which was not different compared with that of asymptomatic cases(p=0.58, p=0.74).Conclusions: The clinical symptoms of children are mild, and the positive indicators of laboratory tests are rare, which may easily cause clinical misdiagnoses.

scholarly journals Challenges in Management of Bartholin gland Leiomyoma: A Case Report

2020 ◽  
Author(s):  
Angela Vinturache ◽  
Lamiese Ismail ◽  
Stephen Damato ◽  
Hooman Soleymani Maid
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Symptom Control ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Postoperative Recovery ◽  
Long Term Follow Up ◽  
Vulvar Mass

Abstract Background: Leiomyomas are uncommon vulvar neoplasms often misdiagnosed as other Bartholin gland pathology. Due to their rarity and the absence of guidelines, their diagnosis and management remain challenging, largely based on expert opinion and evidence from case reports. Case Presentation: This case report describes a 44-year-old woman presenting with accelerating growth of a vulvar mass. Based on clinical signs and symptoms, the initial diagnosis was Bartholin cyst. Surgical excision was provided for symptom control and aesthetic reasons. The histopathologic diagnosis was vulvar leiomyoma. The postoperative recovery was complicated by secondary haematoma and dehiscence of the surgical site. There was no recurrence at two years follow up. Therefore, we discuss the dilemma posed by physical examination of a vulvar mass, the challenges of the management, and report on secondary morbidity and long-term follow up, aspects of care for patients with vulvar pathology not commonly addressed in the literature. Conclusions: Bartholin gland neoplasms are rare tumors, commonly misdiagnosed as Bartholin’s cysts. Excision is the treatment of choice. Short time follow up allows prompt management of potential postoperative complications. Continuing long term follow up is recommended due to recurrence risk.

Medically important trombiculids: a systematic review of the global distribution and clinical consequences of their bites

2021 ◽  
Vol 5 (2) ◽  
pp. 67-76
Author(s):  
Julián F. Porras-Villamil ◽  
Mario Javier-Olivera
Keyword(s):  
Systematic Review ◽  
Human Health ◽  
Case Reports ◽  
Clinical Signs ◽  
Case Series ◽  
Clinical Importance ◽  
Signs And Symptoms ◽  
Publication Date ◽  
Rickettsial Infections ◽  
Clinical Consequences

Background: Mites are among the smallest arthropods that can be seen without magnification, were the use of dermatoscopy is an invaluable tool. They are a cosmopolitan pest, and at the moment more than 250 species have been shown to produce problems for humans and animals alike. These mites are capable of producing a wide array of clinical signs and symptoms, from local to systemic, from mild to severe, as well as transmitting pathogens. This study aimed to provide an update to the clinical impact on human health, the distribution and species involved in the clinical conditions produced by trombiculids through a systematic review. Background: Mites are among the smallest arthropods that can be seen without magnification, were the use of dermatoscopy is an invaluable tool. They are a cosmopolitan pest, and at the moment more than 250 species have been shown to produce problems for humans and animals alike. These mites are capable of producing a wide array of clinical signs and symptoms, from local to systemic, from mild to severe, as well as transmitting pathogens. This study aimed to provide an update to the clinical impact on human health, the distribution and species involved in the clinical conditions produced by trombiculids through a systematic review. Methods: A systematic literature review was conducted in Medline, Lilacs, Redalyc, Scopus, SciELO and Google Scholar, were we use as a threshold of publication date the year 2008. We limited the search strategy to articles published in Portuguese, French, English and Spanish. Eligible studies were case reports and case series that reported outcomes in humans caused by trombiculid bites. Patient-level and study-level information was extracted. Results: The literature search yielded 832 studies; 13 were case reports, 4 case series and 2 descriptive studies reporting a total of 49 cases. Most patients were male, and the median age was 33.7±6.4 years old. The most frequently reported symptoms were local erythema, pruritus and papules. No deaths were documented. Trombiculids from the genera Trombicula, Eutrombicula and Leptotrombidium appear to be the most commonly reported. Discussion: Trombiculiasis is an infestation caused by the larval stage of various types of mites, known as chiggers, they belong to the class Arachnida and the family Trombiculidae. This systematic review provides an overview of the trombiculids of clinical importance, their distribution and effects of the bite on human health. Our results show that there are different species of mites that can have important consequences for human health. No fatal cases owere registered.Even so, the transmission of scrub typhus is important and remains one of the most life-threatening rickettsial infections in some regions of Asia. Conclusions: The bite of different species of trombiculids around the world can cause a wide array of clinical consequences to human health. Even as mortality appear to be nonexistent, trombiculid bites must be adequately diagnosed and treated properly: A systematic literature review was conducted in Medline, Lilacs, Redalyc, Scopus, SciELO and Google Scholar, were we use as a threshold of publication date the year 2008. We limited the search strategy to articles published in Portuguese, French, English and Spanish. Eligible studies were case reports and case series that reported outcomes in humans caused by trombiculid bites. Patient-level and study-level information was extracted. Results: The literature search yielded 832 studies; 13 were case reports, 4 case series and 2 descriptive studies reporting a total of 49 cases. Most patients were male, and the median age was 33.7±6.4 years old. The most frequently reported symptoms were local erythema, pruritus and papules. No deaths were documented. Trombiculids from the genera Trombicula, Eutrombicula and Leptotrombidium appear to be the most commonly reported. Discussion: Trombiculiasis is an infestation caused by the larval stage of various types of mites, known as chiggers, they belong to the class Arachnida and the family Trombiculidae. This systematic review provides an overview of the trombiculids of clinical importance, their distribution and effects of the bite on human health. Our results show that there are different species of mites that can have important consequences for human health. No fatal cases owere registered.Even so, the transmission of scrub typhus is important and remains one of the most life-threatening rickettsial infections in some regions of Asia. Conclusions: The bite of different species of trombiculids around the world can cause a wide array of clinical consequences to human health. Even as mortality appear to be nonexistent, trombiculid bites must be adequately diagnosed and treated properly.

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