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The cold case of state transition 7 (stt7) mutants of Chlamydomonas reinhardtii, solved by whole-genome sequencing.

The process of State Transitions (ST) corresponds to an STT7 kinase-driven redistribution of the transmembrane LHCII antenna proteins between Photosystem II (PSII) and Photosystem I (PSI), which results from changes in their phosphorylation state. For the past two decades, two LHCII-kinase mutants, stt7-1 and stt7-9, have been instrumental in the study of STs in Chlamydomonas reinhardtii, the former being a null mutant for the kinase but quasi-sterile in crosses, while the latter, although fertile, has a leaky phenotype. Using long-read sequencing, this study further characterized the genetic lesions of the stt7 mutant strains through whole-genome reconstruction and de novo chromosome assembly. In addition, two new stt7 null mutants were generated, one derived by crosses from the original stt7-1 and one obtained by Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-associated protein 9 (Cas9) technology. This work provides a comprehensive genomic characterization of the original stt7-1 null mutant, revealing extensive chromosomal rearrangements and high levels of aneuploidy, associated with increased cell size and meiotic dysfunction. Reassessment of their physiology and genetic backgrounds highlights the need for caution in interpreting genetic information. We thus produced more reliable null mutants for the LHCII-kinase, amenable to genetic crosses for the study of STs in a variety of genetic backgrounds.

Chlamydomonas reinhardtii

Cold agglutinin disease. Report of a case.

Cold agglutinin disease is an autoimmune hemolytic anemia with varying causes. Two major types are recognized, with different clinical manifestations. Cold agglutinins are circulating antibodies capable of erythrocyte agglutination. However, the reaction is readily reversible. Treatment of the disease is variable. A case is presented to illustrate that minor oral surgical procedures are feasible, provided the proper precautions are taken.

Alveoloplasty

[Thyroid hemiagenesis (single thyroid lobe). 8 cases (author's transl)].

Thyroid agenesis would appear to be a rare abnormality (50 cases, including 8 personal). In fact, it is a simple anatomical curiosity which may be found in the presence of any type of thyroid condition (simple goitre: 4 cases, thyrotoxicosis: 2 cases, cold nodule: 2 cases, as far as our own patients were concerned). Our 8 patients were all women, hemiagenesis being more commonly discovered in the female sex. In 2 patients the right lobe was absent, and the left in the other 6. In general, the abnormality affects the left lobe three times more commonly than the right. The differential diagnosis essentially lies with autonomic thyroid nodules, which are much more common, and isotope scanning provides the answer.

Adenoma

Serologic diagnosis in the differentiation of autoimmune hemolytic anemias.

A complex serologic study was carried out in 20 patients with autoimmune hemolytic anemias (AIHA). The methods used were: the direct Coombs' test with specific sera anti IgG, IgM, IgA and complement (C), the direct and indirect test with papain treated erythrocytes (at 37 degrees C), determination of cold agglutinin titer and of warm and cold hemolysins. By these investigations using indigenous sera, the 20 cases of autoimmune hemolytic anemia could be classified: a) according to the thermal behaviour of autoantibodies, into warm antibody AIHA -- 15 cases, cold antibody AIHA -- 2 cases and both warm and cold antibody AIHA -- 3 cases; and b) according to the sensitizing globulin, into: IgG type -- 10 cases, IgG + C type -- 7 cases, IgG + IgM + C type -- 1 case, type C + cold agglutinins -- 2 cases.

Agglutination Tests

[Results of the treatment in cases of cold urticaria, cold pruritus and cold rhinitis with peritol (zyproheptadinhydrochlorid) (author's transl)].

19 patients with cold urticaria, 5 with cold pruritus and 2 with cold rhinitis were successfully treated with peritol with the exception of one patient who suffered from a symptomatic pruritus due to polycythemia vera. Even in cases of recurrence the treatment was at once successful. Therefore peritol seems to be useful in the treatment of diseases due to cold.

Cold Temperature

[Splenic lympho-plasmocytic sarcomas discovered by exploratory laparotomy in 2 cases of cold agglutinin disease].

The 2 patients have cold agglutinin disease with lymphoid nodules in the bone marrow. A splenectomy was done because of the severity of the hemolytic anemia and because of the increasing splenomegaly. Tumoral nodules with the aspect of lymphoplasmocytic sarcoma or immunocytoma were discovered in the spleen. Those tumors can be considered either as a morphologic aspect of the cold agglutinin disease which is yet considered as a kind of chronic lymphoproliferative syndrom or as the proliferation of an other clone. In this hypothesis, the lymphoplasmocytic sarcoma habe the same signification that the Richter's syndrome in chronic lymphoid leukemia and that the sarcoma appearing in Waldenström's macroglobulinemia or in alpha heavy chain disease.

Abdomen

A rare and atypical case of long-distance indirect DNA transfer: Contamination from an investigator never present at the scene.

To maximize the usefulness of DNA obtained from biological samples in forensic genetics, it is crucial to avoid DNA contamination throughout all procedures, from sample collection at crime scenes to STR profile generation in DNA laboratories. This study reports a rare and atypical case of DNA contamination in a forensic setting. During the analysis of biological evidence from a cold case preserved for 18 years, the STR profile obtained from the surface of a plastic bag matched that of an investigator, identified through the DNA elimination database. Case reconstruction confirmed that the investigator-who was located 80 km from the DNA laboratory and had never entered the crime scene or the sample storage room-was not a suspect and that the obtained STR profile originated from contamination. The most plausible explanation for the contamination was indirect transfer: investigator's DNA had adhered to a colleague's clothing and was subsequently dislodged and deposited onto the surface of the plastic bag as the colleague approached the sample pretreatment area. This study integrates trace DNA profiling of challenged samples with rapid contamination investigation and proposes prevention and control measures. This case underscores that, although DNA is widely regarded as the "gold standard" in forensic genetics, its interpretation must be considered within the context of the entire case. Conclusions should not be drawn based solely on a single DNA result.

Humans

Hot vs cold knife for endoscopic ablation of posterior urethral valves: a systematic review by the EAU-YAU paediatric urology working group.

INTRODUCTION: Posterior urethral valves (PUV) are the most frequent cause of congenital lower urinary tract obstruction in males. Despite early surgical ablation, up to 22% of patients develop chronic kidney disease and 11% progress to end-stage renal disease. Multiple endoscopic modalities have been described for valve ablation but the optimal technique remains uncertain. This systematic review aims to determine whether cold or hot knife ablation provides superior effectiveness for primary endoscopic treatment of PUV in a single surgical session. MATERIAL AND METHODS: A systematic search of PubMed and Embase databases was conducted to identify studies comparing cold and hot knife techniques for endoscopic ablation of PUV in children, covering all publications up to December 2025. The review was performed in accordance with PRISMA 2020 guidelines and was prospectively registered in PROSPERO (ID CRD420251180556). Original studies including patients <18 years who underwent primary valve ablation with postoperative cystoscopy or VCUG and &#x2265;6 months of follow-up were included. Quality assessment was done using RoB 2.0 for randomized trials and MINORS for observational studies. RESULTS: A total of 1581 studies were identified, of which 26 met the inclusion criteria, comprising one randomized controlled trial, five prospective, and 20 retrospective studies constituting a sum of 1725 paediatric patients. The overall methodological quality of included studies was moderate, with marked heterogeneity in design, follow-up duration, and outcome reporting, limiting direct comparisons across series. Thus statistical analysis was not possible. Of these, 829 (48.1%) underwent cold valve ablation and 896 (51.9%) underwent hot ablation techniques. Within the cold group, most patients were treated with a cold knife (80.2%), followed by balloon dilatation (7%), the Mohan valvotome (6.5%), cold hook (5%), and, rarely, a modified venous valvulotome (1.3%). Among hot techniques, 32.8% of procedures were performed by electro-fulguration with a resectoscope, 29.4% using a Bugbee electrode, 23.8% with a hook electrode and 14% with laser-based systems. Follow-up ranged from 6 months to 22 years across studies. Single-session success rates for valve ablation ranged from 22% to 100% in the cold resection group and from 71.4% to 100% in the hot resection group. Reintervention for residual valves was reported in 0%-78% of cold cases and in 0%-28.6% of hot resections. Urethral stricture rates ranged from 0% to 11.1% after cold incision and from 0% to 23.8% after hot techniques. Reporting of postoperative outcomes such as urinary tract infection, incontinence, bladder dysfunction, vesicoureteral reflux (VUR) resolution, hydronephrosis improvement, and renal function varied widely among studies and was assessed using different methodologies. CONCLUSIONS: Both cold and hot ablation techniques for PUV achieved high single-session success rates and low complication rates. Cold resection appeared slightly safer, although this finding should be interpreted cautiously given the heterogeneity and observational nature of the available data.

Humans

Paroxysmal cold haemoglobinuria. A case report.

The clinical and biochemical findings in a 35-year-old Black man with paroxysmal cold haemoglobinuria are presented. Particular attention is drawn to the possible triggers of the haemolytic process, and the treatment is briefly reviewed.

Adult

[Cold-induced skin damage].

Two cases of cold-induced skin-damage are reported. In one case cold-induced panniculitis (Adiponecrosis e frigore) in a small child was found. In the other case a Dermo-Hypodermitis in an elderly lady was found, where cold was possibly just one, even if certainly the most important factor of realisation for the disease. In both cases neither the parents, respectively the patient, thought of cold-inducement of the disease, neither were anamnestic circumstances sufficiently explorated by the prior treating doctors, so that it seems justified to demonstrate such events in relation to this subject.

Aged

Cold agglutinins in a case of chronic lymphatic leukaemia. A study of the lymphocyte surface.

A case of chronic lymphatic leukaemia with cold agglutinins is presented in which peripheral blood lymphocytes of varying maturity appeared to possess T- and B-cell markers. A cold agglutinin IgM in type is identified in the serum and at the cell surface. This seems to be responsible for the spontaneous rosetting of sheep red blood cells (SRBC); A single clonal origin of these cells is suggested with maturation arrest. It is also suggested that with configurational change in lymphocyte surface cryoglobulins may sometimes produce spontaneous rosetting with SRBC.

Agglutinins

A new case of monoclonal IgA kappa cold agglutinin with anti-Pr1d specificity in a patient with persistent HB antigen cirrhosis.

A new case of cold agglutinin disease in a patient who had a long lasting Raynaud's phenomenon without hemolysis and a persistent HB antigen cirrhosis, is reported. The cold agglutinin is a monoclonal IgA kappa antibody which reacts at 4degreesC to a titer of 256. As the three other cases described in the literature, it demonstrates Pr1 specificity. The eluate from human cells reacts with rat and dog cells whose receptor is destroyed by both papain and neuraminidase, thus eliciting the characteristic Pr1d specificity.

Aged

In-vitro synthesis of an anti-BI cold agglutinin complicating a case of lymphoma.

A woman of 47 with lymphocytic lymphoma was found to have a high-titer cold autoagglutinin of anit-BI specificity. Her group B erythrocytes autoagglutinated of anti-BI specificity. Her group B erythrocytes autoagglutinated in vitro and the direct antiglobulin reaction was positive, but she had no symptom of cold intolerance, no evidence of hemolysis, and she could receive transfusions of compatible group O erythrocytes. In addition, evidence for synthesis of the autoantibody by the lymphoma cells was obtained by short-term bone-marrow culture.

ABO Blood-Group System

Cold injuries in Kashmir, December 1971.

A total of 847 cases of cold injury occurred within the short space of 2 weeks during the Indo-Pakistan conflict in Kashmir in December 1971. The management of these cases and their end results are described. A combination of drugs consisting of low-molecular-weight dextran, an anti-inflammatory agent, and a vasodilator was tried with encouraging results. A conservative attitude towards ablation of necrosed tissues paid good dividends.

Amputation, Surgical