Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue

2015 ◽  
Vol 146 (1) ◽  
pp. 44-50 ◽  
Author(s):  
Federica Natacci ◽  
Giulia Melloni ◽  
Francesca Motta ◽  
Rosamaria Silipigni ◽  
Fabio Doniselli ◽  
...  
Keyword(s):  
Rare Condition ◽  
Diagnostic Process ◽  
Caucasian Woman ◽  
Balanced Translocation ◽  
Fetal Autopsy ◽  
Chorionic Villi ◽  
Short And Long Term ◽  
Mosaic Trisomy

Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward. Sometimes, however, results are not entirely clear and may reveal unexpected biological processes. We performed chorionic villi sampling for a paternal 8;15 reciprocal translocation in the sixth pregnancy of a Caucasian woman. Cytogenetic analysis of chorionic villi, after both short- and long-term cultures, revealed the presence of the same rearrangement found in the father as well as a trisomy 15. Surprisingly, the trisomy, which was initially expected to derive from aberrant segregation during paternal meiosis, resulted instead from maternal nondisjunction. Although a sonogram of the fetus appeared to be normal, follow-up amniocentesis demonstrated a low-level mosaic trisomy 15 in cells extracted from the amniotic fluid, while 10% of cells from fetal tissues sampled after termination of the pregnancy were also found to be trisomic. Fetal autopsy showed dysmorphic features, confirming the diagnosis of mosaic trisomy 15 and enabled deeper insight into the prenatal phenotype of this rare condition.

Short- and Long-Term Results of Total vs Subtotal Thyroid- ectomies in the Surgical Treatment of Graves' Disease

Swiss Surgery ◽  
2001 ◽  
Vol 7 (1) ◽  
pp. 20-24 ◽  
Author(s):  
Robert ◽  
Mariéthoz ◽  
Pache ◽  
Bertin ◽  
Caulfield ◽  
...  
Keyword(s):  
Recurrent Laryngeal Nerve ◽  
Nerve Palsy ◽  
Recurrent Laryngeal Nerve Palsy ◽  
Laryngeal Nerve ◽  
Long Term Results ◽  
Graves Disease ◽  
Laryngeal Nerve Palsy ◽  
Short And Long Term

Objective: Approximately one out of five patients with Graves' disease (GD) undergoes a thyroidectomy after a mean period of 18 months of medical treatment. This retrospective and non-randomized study from a teaching hospital compares short- and long-term results of total (TT) and subtotal thyroidectomies (ST) for this disease. Methods: From 1987 to 1997, 94 patients were operated for GD. Thirty-three patients underwent a TT (mostly since 1993) and 61 a ST (keeping 4 to 8 grams of thyroid tissue - mean 6 g). All patients had received propylthiouracil and/or neo-mercazole and were in a euthyroid state at the time of surgery; they also took potassium iodide (lugol) for ten days before surgery. Results: There were no deaths. Transient hypocalcemia (< 3 months) occurred in 32 patients (15 TT and 17 ST) and persistent hypocalcemia in 8 having had TT. Two patients developed transient recurrent laryngeal nerve palsy after ST (< 3 months). After a median follow-up period of seven years (1-15) with five patients lost to follow-up, 41 patients having had a ST are in a hypothyroid state (73%), thirteen are euthyroid (23%), and two suffered recurrent hyperthyroidism, requiring completion of thyroidectomy. All 33 patients having had TT - with follow-ups averaging two years (0.5-8) - are receiving thyroxin substitution. Conclusions: There were no instances of persistent recurrent laryngeal nerve palsy in either group, but persistent hypoparathyroidism occurred more frequently after TT. Long after ST, hypothyroidism developed in nearly three of four cases, whereas euthyroidy was maintained in only one-fourth; recurrent hyperthyroidy was rare.

Syncope in relation to pulmonary arterial obstructive burden, hemodynamic status and short- and long-term outcome in patients with acute pulmonary embolism

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
B Keskin ◽  
H.C Tokgoz ◽  
O.Y Akbal ◽  
A Hakgor ◽  
S Tanyeri ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Acute Pulmonary Embolism ◽  
Right Atrial ◽  
Term Outcome ◽  
Risk Status ◽  
Long Term Outcome ◽  
Short And Long Term ◽  
Severity Indexes

Abstract Background and aims Although syncope (S) has been reported as one of the presenting findings in patients (pts) with acute pulmonary embolism (APE), its clinical and haemodynamic correlates and impacts on the long-term outcome in this setting remains to be determined. In this single-centre study we evaluated the clinical and haemodynamic significance of S in APE in initial asessment, and during short- and long-term follow-up period. Methods Our study was based on the retrospective and prospective analysis of the overall 641 pts (age 65 (51–74 IQR) yrs, 56.2% female) with diagnosis of documented APE who underwent anticoagulant (n=207), thrombolytic (n=164), utrasound-facilitated thrombolysis (UFT) (n=218) or rheolytic thrombectomy (RT) (n=52). The systematic work- up including multidetector computed tomography (MDCT), Echo, biomarkers, and PE severity indexes were performed in all pts, and Qanadli score (QS) was used as the measure of the thrombotic burden in the pulmonary arteries (PA). Results The S as the presenting symptom In 30.2% of pts with APE. At baseline assessment, S(+) vs S(−) APE subgroups had a significantly shorter symptom-diagnosis interval, a higher risk status according to the significant elevations in troponin T, D-dimer, the higher PE severity indexes, a more deteriorated right ventricle/left ventricle ratio (RV/LV r), right atrial/left atrial ratio (LA/RAr) and RV longitudinal function indexes including tricuspid annular planary excursion (TAPSE) and tissue velocity (St), a significantly higher PA obstructive burden as assessed by QS and PA pressures. Thrombolytic therapy (36.2% vs 21%, p&lt;0.001) and RT (11.9% vs 6.47%, p=0.037) were more frequently utilized S(+) as compared to S(−) group. However, all these differences between two subgroups were found to disappear after evidence-based APE treatments. In-hospital mortality (IHM) (12.95% vs 6%, p=0.007) and minor bleeding (10.36% vs 2.9%, p&lt;0.001) were significantly higher in S(+) pts as compared to those in S(−) subgroup. Binominal logistic regression analysis revealed that PESI score and RV/LVr independently associated with S while IHM was only predicted by age and heart rate. The COX proportional hazard method showed that RV/LVr at discharge and malignancy were independently associated with cumulative mortality during follow-up duration of 620 (200–1170 IQ) days. Conclusions The presence of S in pts with APE was found to be asociated with a higher PA obstructive burden, a more deteriorated RV function and haemodynamics and higher risk status which may need more agressive reperfusion treatments. However, in the presence of the optimal treatments, S did not predict neither in-hospital outcome, nor long-term mortality. Funding Acknowledgement Type of funding source: None

Persistent Multispecies Actinomyces Mastitis Treated With Repeated Aspiration and Long-Term Oral Antibiotics

2021 ◽  
pp. 000313482110257
Author(s):  
Colin Jenkins ◽  
Anand Ganapathy ◽  
Crystal Fancher ◽  
Kazuhide Matsushima
Keyword(s):  
Antibiotic Therapy ◽  
Rare Condition ◽  
Breast Abscess ◽  
Amoxicillin Clavulanic Acid ◽  
Recurrent Breast ◽  
Causative Bacterium ◽  
Repeated Aspiration ◽  
Prolonged Antibiotic Therapy

Actinomycosis is an infection characterized by abscess formation, draining sinuses, and tissue fibrosis. The causative bacterium is a Gram-positive facultative anaerobe from the genus Actinomyces. Infections classically affect the cervicofacial, thoracic, or pelvic region and often require prolonged antibiotic therapy. Actinomycosis of the breast is a rare condition that may present as a recurrent breast abscess. We present a 33-year-old female with a recurrent breast abscess which grew A. radingae and A. israeli on aspirated fluid cultures. Treatment with surgical aspiration and a 6-week course of oral amoxicillin/clavulanic acid 875 mg twice daily resulted in clinical improvement. Our case demonstrates how recurrent breast abscesses caused by Actinomyces can be difficult to manage. Long-term antibiotic therapy with surgical aspiration and regular follow-up offer the best chance of clinical resolution.

Infective endocarditis in patients who use IV drugs: a single centre cohort

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
H Alraddadi ◽  
A Alsagheir ◽  
S Gao ◽  
K An ◽  
H Hronyecz ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Infective Endocarditis ◽  
Long Term Outcomes ◽  
Replacement Surgery ◽  
Short Term Mortality ◽  
History Of ◽  
Short And Long Term ◽  
Baseline Characteristics

Abstract Background Managing endocarditis in intravenous drug use (IVDU) patients is challenging: unless patients successfully quit IVDU, the risk of re-infection is high. Clinicians often raise concerns with ethical and resource allocation principles when considering valve replacement surgery in this patient population. To help inform practice, we sought to determine the long-term outcomes of IVDU patients with endocarditis who underwent valve surgery in our center. Method After research ethics board approval, infective endocarditis cases managed surgically at our General Hospital between 2009 and 2018 were identified through the Cardiac Care Network. We reviewed patients' charts and included those with a history of IVDU in this study. We abstracted data on baseline characteristics, peri-operative course, short- and long-term outcomes. We report results using descriptive statistics. Results We identified 124 IVDU patients with surgically managed endocarditis. Mean age was 37 years (SD 11), 61% were females and 8% had redo surgery. During admission, 45% (n=56) of the patients had an embolic event: 63% pulmonary, 30% cerebral, 18% peripheral and 11% mesenteric. Causative organisms included Methicillin-Sensitive Staphylococcus Aureus (51%, n=63), Methicillin-Resistant Staphylococcus Aureus (15%, n=19), Streptococcus Viridans (2%, n=2), and others (31%, n=38). Emergency cardiac surgery was performed for 42% of patients (n=52). Most patients (84%) had single valve intervention: 53% tricuspid, 18% aortic and 13% mitral. Double valve interventions occurred in 15% (n=18). Overall, bioprosthetic replacement was most commonly chosen (79%, n=98). In-hospital mortality was 7% (n=8). Median length of stay in hospital was 13 days (IQR 8,21) and ICU 2 days (IQR 1,6). Mortality at longest available follow-up was 24% (n=30), with a median follow-up of 129 days (IQR 15,416). Valve reintervention rate was 11% (n=13) and readmission rate was 14% (n=17) at a median of 275 days (IQR 54,502). Conclusion Despite their critical condition, IVDU patients with endocarditis have good intra-hospital outcomes. Challenges occur after hospital discharge with loss of follow-up and high short-term mortality. IVDU relapse likely accounts for some of these issues. In-hospital and community comprehensive addiction management may improve these patients' outcomes beyond the surgical procedure. Annual rate 2009–2018 Funding Acknowledgement Type of funding source: None

scholarly journals Comparison of Short- and Long-Term Prognosis between ST-Elevation and Non-ST-Elevation Myocardial Infarction

2021 ◽  
Vol 10 (2) ◽  
pp. 180
Author(s):  
Frédéric Bouisset ◽  
Jean-Bernard Ruidavets ◽  
Jean Dallongeville ◽  
Marie Moitry ◽  
Michele Montaye ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Mortality Rate ◽  
Confounding Factors ◽  
Coronary Syndrome ◽  
Short And Long Term ◽  
St Elevation ◽  
Probability Of Death ◽  
Long Term Prognosis

Background: Available data comparing long-term prognosis according to the type of acute coronary syndrome (ACS) are scarce, contradictory, and outdated. Our aim was to compare short- and long-term mortality in ST-elevated (STEMI) and non-ST-elevated myocardial infarction (non-STEMI) ACS patients. Methods: Patients presenting with an inaugural ACS during the year 2006 and living in one of the three areas in France covered by the Monitoring of Trends and Determinants in Cardiovascular Disease (MONICA) registry were included. Results: A total of 1822 patients with a first ACS—1121 (61.5%) STEMI and 701 (38.5%) non-STEMI—were included in the study. At the 28-day follow-up, the mortality rates were 6.7% and 4.7% (p = 0.09) for STEMI and non-STEMI patients, respectively, and after adjustment of potential confounding factors, the 28-day probability of death was significantly lower for non-STEMI ACS patients (Odds Ratio = 0.58 (0.36–0.94), p = 0.03). At the 10-year follow-up, the death rates were 19.6% and 22.8% (p = 0.11) for STEMI and non-STEMI patients, respectively, and after adjustment of potential confounding factors, the 10-year probability of death did not significantly differ between non-STEMI and STEMI events (OR = 1.07 (0.83–1.38), p = 0.59). Over the first year, the mortality rate was 7.2%; it then decreased and stabilized at 1.7% per year between the 2nd and 10th year following ACS. Conclusion: STEMI patients have a worse vital prognosis than non-STEMI patients within 28 days following ACS. However, at the 10-year follow-up, STEMI and non-STEMI patients have a similar vital prognosis. From the 2nd year onwards following the occurrence of a first ACS, the patients become stable coronary artery disease patients with an annual mortality rate in the 2% range, regardless of the type of ACS they initially present with.

scholarly journals Long Covid-19: Proposed Primary Care Clinical Guidelines for Diagnosis and Disease Management

2021 ◽  
Vol 18 (8) ◽  
pp. 4350
Author(s):  
Antoni Sisó-Almirall ◽  
Pilar Brito-Zerón ◽  
Laura Conangla Ferrín ◽  
Belchin Kostov ◽  
Anna Moragas Moreno ◽  
...  
Keyword(s):  
Primary Care ◽  
Disease Management ◽  
Signs And Symptoms ◽  
Diagnostic Process ◽  
Press Releases ◽  
Expert Opinions ◽  
Number Of Patients ◽  
Patient Groups

Long COVID-19 may be defined as patients who, four weeks after the diagnosis of SARS-Cov-2 infection, continue to have signs and symptoms not explainable by other causes. The estimated frequency is around 10% and signs and symptoms may last for months. The main long-term manifestations observed in other coronaviruses (Severe Acute Respiratory Syndrome (SARS), Middle East respiratory syndrome (MERS)) are very similar to and have clear clinical parallels with SARS-CoV-2: mainly respiratory, musculoskeletal, and neuropsychiatric. The growing number of patients worldwide will have an impact on health systems. Therefore, the main objective of these clinical practice guidelines is to identify patients with signs and symptoms of long COVID-19 in primary care through a protocolized diagnostic process that studies possible etiologies and establishes an accurate differential diagnosis. The guidelines have been developed pragmatically by compiling the few studies published so far on long COVID-19, editorials and expert opinions, press releases, and the authors’ clinical experience. Patients with long COVID-19 should be managed using structured primary care visits based on the time from diagnosis of SARS-CoV-2 infection. Based on the current limited evidence, disease management of long COVID-19 signs and symptoms will require a holistic, longitudinal follow up in primary care, multidisciplinary rehabilitation services, and the empowerment of affected patient groups.

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